XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Narrow chest

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCC912p12.1100%gene with protein product601439Abnormality of the hand; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Anteverted nares; Autosomal dominant inheritance; Bicuspid aortic valve; Blepharophimosis; Broad first metatarsal; Broad hallux; Broad hallux phalanx; Broad ribs; Bulbous nose; Cardiomegaly; Coarse facial features; Congenital hypertrophy of left ventricle; Congenital, generalized hypertrichosis; Coxa valga; Craniofacial hyperostosis; Cuboid-shaped vertebral bodies; Curly eyelashes; Deep plantar creases; Delayed skeletal maturation; Depressed nasal bridge; Dilated cardiomyopathy; Epicanthus; Erlenmeyer flask deformity of the femurs; Everted lower lip vermilion; Furrowed tongue; Generalized hirsutism; Gingival overgrowth; Highly arched eyebrow; Hypertelorism; Hypoplastic ischiopubic rami; Intellectual disability, mild; Joint hyperflexibility; Large for gestational age; Large hands; Large sella turcica; Long eyelashes; Long nose; Long philtrum; Low anterior hairline; Low posterior hairline; Lymphedema; Macrocephaly; Macroglossia; Metaphyseal widening; Micrognathia; Narrow chest; Osteoporosis; Ovoid vertebral bodies; Palpebral edema; Paroxysmal atrial fibrillation; Patent ductus arteriosus; Pericardial effusion; Platyspondyly; Prominent forehead; Prominent supraorbital ridges; Short distal phalanx of finger; Short hallux; Short neck; Skeletal dysplasia; Sloping forehead; Synophrys; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Thick upper lip vermilion; Thick vermilion border; Thickened skin; Umbilical hernia; Wide mouth; Wide nasal bridge; Widened posterior fossa
ABCC912p12.1100%gene with protein product601439Abnormality of the hand; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Anteverted nares; Autosomal dominant inheritance; Bicuspid aortic valve; Blepharophimosis; Broad first metatarsal; Broad hallux; Broad hallux phalanx; Broad ribs; Bulbous nose; Cardiomegaly; Coarse facial features; Congenital hypertrophy of left ventricle; Congenital, generalized hypertrichosis; Coxa valga; Craniofacial hyperostosis; Cuboid-shaped vertebral bodies; Curly eyelashes; Deep plantar creases; Delayed skeletal maturation; Depressed nasal bridge; Dilated cardiomyopathy; Epicanthus; Erlenmeyer flask deformity of the femurs; Everted lower lip vermilion; Furrowed tongue; Generalized hirsutism; Gingival overgrowth; Highly arched eyebrow; Hypertelorism; Hypoplastic ischiopubic rami; Intellectual disability, mild; Joint hyperflexibility; Large for gestational age; Large hands; Large sella turcica; Long eyelashes; Long nose; Long philtrum; Low anterior hairline; Low posterior hairline; Lymphedema; Macrocephaly; Macroglossia; Metaphyseal widening; Micrognathia; Narrow chest; Osteoporosis; Ovoid vertebral bodies; Palpebral edema; Paroxysmal atrial fibrillation; Patent ductus arteriosus; Pericardial effusion; Platyspondyly; Prominent forehead; Prominent supraorbital ridges; Short distal phalanx of finger; Short hallux; Short neck; Skeletal dysplasia; Sloping forehead; Synophrys; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Thick upper lip vermilion; Thick vermilion border; Thickened skin; Umbilical hernia; Wide mouth; Wide nasal bridge; Widened posterior fossa
ADAMTS34q13.3100%gene with protein product605011Abnormality of dental morphology; Ascites; Broad forehead; Decreased antibody level in blood; Delayed eruption of teeth; Depressed nasal bridge; Epicanthus; Erysipelas; External ear malformation; Flat face; Gingival overgrowth; Glaucoma; Hypertelorism; Increased number of teeth; Intellectual disability; Low-set ears; Lymphadenopathy; Lymphangioma; Lymphedema; Lymphopenia; Malabsorption; Mild postnatal growth retardation; Narrow chest; Recurrent respiratory infections; Reduced number of teeth; Seizures; Splenomegaly; Wide nasal bridge
AGRN1p36.33100%gene with protein product103320AGRINAutosomal recessive inheritance; Easy fatigability; Facial palsy; Narrow chest; Proximal muscle weakness; Ptosis; Variable expressivity
ASXL120q11.21100%gene with protein product612990Abnormal anterior chamber morphology; Abnormality of cardiovascular system morphology; Abnormality of the optic nerve; Abnormality of the pancreas; Accessory oral frenulum; Agenesis of corpus callosum; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Broad alveolar ridges; Broad palm; Camptodactyly; Camptodactyly of finger; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Convex nasal ridge; Dandy-Walker malformation; Death in infancy; Deep palmar crease; Deep plantar creases; Delayed peripheral myelination; Dislocated radial head; Elbow dislocation; Facial hemangioma; Failure to thrive; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Heterotopia; Hirsutism; Hyperechogenic pancreas; Hypertelorism; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability, profound; Intellectual disability, severe; Intestinal malrotation; Intrauterine growth retardation; Limitation of joint mobility; Long face; Low anterior hairline; Low-set ears; Mesomelic/rhizomelic limb shortening; Microcephaly; Micrognathia; Myelodysplasia; Myopia; Narrow chest; Narrow forehead; Narrow palate; Nevus flammeus; Nevus flammeus of the forehead; Overlapping toe; Platyspondyly; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Prominent metopic ridge; Proptosis; Retinopathy; Retrognathia; Sacral dimple; Seizures; Short thorax; Short toe; Somatic mutation; Strabismus; Supernumerary nipple; Syndactyly; Synophrys; Tapered finger; Thick hair; Trigonocephaly; Ulnar deviation of finger; Ulnar deviation of the wrist; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge
ATP7AXq21.199.98%gene with protein product300011MNKAbnormal carotid artery morphology; Abnormal peripheral nervous system morphology; Abnormality of the face; Abnormality of the metaphysis; Abnormality of the palate; Abnormality of the sense of smell; Abnormality of the wrist; Aplasia/Hypoplasia of the abdominal wall musculature; Arterial stenosis; Atypical scarring of skin; Behavioral abnormality; Bladder carcinoma; Bladder diverticulum; Brachycephaly; Brachydactyly; Broad clavicles; Broad ribs; Bruising susceptibility; Capitate-hamate fusion; Carotid artery tortuosity; Cerebral calcification; Chronic diarrhea; Coarse hair; Convex nasal ridge; Coxa valga; Cutis laxa; Death in childhood; Delayed cranial suture closure; Developmental regression; Dilatation; Distal amyotrophy; Distal muscle weakness; Dry skin; Dysphagia; EMG: neuropathic changes; Esophagitis; Exostoses; Fatigue; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Gastroparesis; Genu valgum; Global developmental delay; Hepatitis; Hiatus hernia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperextensible skin; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Hypothermia; Inguinal hernia; Intellectual disability; Intracranial hemorrhage; Intrauterine growth retardation; Jaundice; Joint hyperflexibility; Joint laxity; Juvenile onset; Keloids; Kyphosis; Large fontanelles; Limited elbow extension; Limited knee extension; Long face; Long neck; Long philtrum; Malabsorption; Mask-like facies; Metaphyseal spurs; Metaphyseal widening; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Narrow chest; Narrow face; Nausea and vomiting; Orthostatic hypotension; Osteomalacia; Osteopenia; Osteoporosis; Pectus carinatum; Pectus excavatum; Pelvic bone exostoses; Persistent open anterior fontanelle; Pes cavus; Pes planus; Platyspondyly; Poor suck; Prolonged neonatal jaundice; Prominent occiput; Redundant skin; Rickets; Seizures; Short clavicles; Short humerus; Short palm; Short stature; Slow progression; Soft skin; Sparse hair; Spasticity; Specific learning disability; Spinal muscular atrophy; Synostosis of joints; Thickened skin; Umbilical hernia; Unsteady gait; Ureteral obstruction; Venous insufficiency; Woolly hair; Wormian bones; X-linked recessive inheritance
ATP7AXq21.199.98%gene with protein product300011MNKAbnormal carotid artery morphology; Abnormal peripheral nervous system morphology; Abnormality of the face; Abnormality of the metaphysis; Abnormality of the palate; Abnormality of the sense of smell; Abnormality of the wrist; Aplasia/Hypoplasia of the abdominal wall musculature; Arterial stenosis; Atypical scarring of skin; Behavioral abnormality; Bladder carcinoma; Bladder diverticulum; Brachycephaly; Brachydactyly; Broad clavicles; Broad ribs; Bruising susceptibility; Capitate-hamate fusion; Carotid artery tortuosity; Cerebral calcification; Chronic diarrhea; Coarse hair; Convex nasal ridge; Coxa valga; Cutis laxa; Death in childhood; Delayed cranial suture closure; Developmental regression; Dilatation; Distal amyotrophy; Distal muscle weakness; Dry skin; Dysphagia; EMG: neuropathic changes; Esophagitis; Exostoses; Fatigue; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Gastroparesis; Genu valgum; Global developmental delay; Hepatitis; Hiatus hernia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperextensible skin; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Hypothermia; Inguinal hernia; Intellectual disability; Intracranial hemorrhage; Intrauterine growth retardation; Jaundice; Joint hyperflexibility; Joint laxity; Juvenile onset; Keloids; Kyphosis; Large fontanelles; Limited elbow extension; Limited knee extension; Long face; Long neck; Long philtrum; Malabsorption; Mask-like facies; Metaphyseal spurs; Metaphyseal widening; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Narrow chest; Narrow face; Nausea and vomiting; Orthostatic hypotension; Osteomalacia; Osteopenia; Osteoporosis; Pectus carinatum; Pectus excavatum; Pelvic bone exostoses; Persistent open anterior fontanelle; Pes cavus; Pes planus; Platyspondyly; Poor suck; Prolonged neonatal jaundice; Prominent occiput; Redundant skin; Rickets; Seizures; Short clavicles; Short humerus; Short palm; Short stature; Slow progression; Soft skin; Sparse hair; Spasticity; Specific learning disability; Spinal muscular atrophy; Synostosis of joints; Thickened skin; Umbilical hernia; Unsteady gait; Ureteral obstruction; Venous insufficiency; Woolly hair; Wormian bones; X-linked recessive inheritance
B3GAT311q12.3100%gene with protein product606374Abnormally large globe; Accelerated skeletal maturation; Amblyopia; Aortic root aneurysm; Autosomal recessive inheritance; Bicuspid aortic valve; Bilateral elbow dislocations; Brachycephaly; Broad distal phalanges of all fingers; Cardiomegaly; Cleft palate; Congenital glaucoma; Cutis laxa; Depressed nasal bridge; Downslanted palpebral fissures; Elbow flexion contracture; Enlarged metaphyses; Esotropia; Frontal bossing; Hip dislocation; Hydrocephalus; Hypermetropia; Hypertelorism; Joint laxity; Knee dislocation; Left ventricular hypertrophy; Low posterior hairline; Low-set ears; Metatarsus adductus; Microdontia; Microtia; Midface retrusion; Mitral valve prolapse; Multiple joint dislocation; Narrow chest; Narrow mouth; Osteopenia; Patent foramen ovale; Pes planus; Prominent forehead; Radioulnar synostosis; Scoliosis; Short neck; Small face; Spatulate thumbs; Talipes equinovalgus; Talipes equinovarus; Thick eyebrow
B4GALT75q35.3100%gene with protein product604327Abnormal facial shape; Abnormality of skin pigmentation; Absent earlobe; Accelerated skeletal maturation; Aortic valve stenosis; Arachnodactyly; Atrophic scars; Autosomal recessive inheritance; Bifid uvula; Bowing of the long bones; Coxa valga; Cryptorchidism; Cutis laxa; Epicanthus; Failure to thrive; Flexion contracture; Generalized hypotonia; Gingivitis; Global developmental delay; Hyperextensible skin; Joint laxity; Lipodystrophy; Long toe; Low-set ears; Macrocephaly; Midface retrusion; Muscular hypotonia; Narrow chest; Narrow mouth; Osteopenia; Palmoplantar cutis gyrata; Pectus carinatum; Pes planus; Progeroid facial appearance; Proptosis; Pulmonic stenosis; Radioulnar synostosis; Short clavicles; Short stature; Single transverse palmar crease; Skeletal dysplasia; Skeletal muscle atrophy; Slender toe; Small face; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Telecanthus; Testicular torsion; Thin skin; Wide nasal bridge
BCORXp11.4100%gene with protein product3004852-3 toe syndactyly; Abnormal cardiac septum morphology; Abnormal palmar dermatoglyphics; Abnormality of dental morphology; Abnormality of the pinna; Aganglionic megacolon; Agenesis of maxillary lateral incisor; Aggressive behavior; Anal atresia; Anophthalmia; Aortic valve stenosis; Asymmetry of the ears; Atrial septal defect; Bicuspid aortic valve; Bifid nasal tip; Bifid uvula; Blepharophimosis; Blindness; Broad nasal tip; Broad palm; Camptodactyly; Camptodactyly of finger; Cataract; Chorioretinal coloboma; Ciliary body coloboma; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Complete duplication of thumb phalanx; Congenital cataract; Cryptorchidism; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Down-sloping shoulders; Exotropia; External ear malformation; Finger syndactyly; Flexion contracture of the 2nd toe; Flexion contracture of the 4th toe; Fused teeth; Generalized hypotonia; Glaucoma; Growth delay; Hammertoe; Hearing impairment; High, narrow palate; Hydronephrosis; Hydroureter; Hypospadias; Increased number of teeth; Intellectual disability; Intellectual disability, mild; Iris coloboma; Joint contracture of the hand; Kyphoscoliosis; Laterally curved eyebrow; Long face; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Microcephaly; Microcornea; Microphthalmia; Misalignment of teeth; Mitral valve prolapse; Motor delay; Narrow chest; Narrow face; Oligodontia; Optic nerve coloboma; Oral cleft; Overfolded helix; Patent ductus arteriosus; Pectus excavatum; Persistence of primary teeth; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Pulmonic stenosis; Pyloric stenosis; Radial deviation of finger; Radioulnar synostosis; Rectal prolapse; Recurrent otitis media; Remnants of the hyaloid vascular system; Renal hypoplasia; Renal hypoplasia/aplasia; Seizures; Self-mutilation; Sensorineural hearing impairment; Septate vagina; Short clavicles; Short stature; Spastic diplegia; Submucous cleft hard palate; Syndactyly; Thick eyebrow; Ventricular septal defect; Visual loss; Webbed neck; X-linked dominant inheritance; X-linked inheritanceDisorders of Sex Development
CANT117q25.3100%gene with protein product613165Abnormality of the eyelashes; Abnormality of the metaphysis; Accelerated skeletal maturation; Advanced ossification of carpal bones; Advanced tarsal ossification; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Autosomal recessive inheritance; Bell-shaped thorax; Bifid distal phalanx of the thumb; Blue sclerae; Brachydactyly; Broad femoral neck; Broad first metatarsal; Camptodactyly of finger; Clinodactyly of the 5th finger; Congenital glaucoma; Coxa valga; Coxa vara; Depressed nasal bridge; Disproportionate short-limb short stature; Elbow dislocation; Flat acetabular roof; Flattened epiphysis; Generalized hypotonia; Genu recurvatum; Genu varum; Glaucoma; Hyperlordosis; Hypotrichosis; Intellectual disability; Joint hyperflexibility; Joint laxity; Kyphosis; Low-set, posteriorly rotated ears; Malar flattening; Medial deviation of the foot; Metaphyseal widening; Microretrognathia; Midface retrusion; Motor delay; Myopia; Narrow chest; Narrow mouth; Obesity; Osteoarthritis; Osteoporosis; Partial duplication of the distal phalanx of the hallux; Patellar dislocation; Pes planus; Phalangeal dislocation; Platyspondyly; Proptosis; Proximal fibular overgrowth; Radioulnar dislocation; Radioulnar synostosis; Round face; Sandal gap; Scoliosis; Severe short stature; Short 1st metacarpal; Short femoral neck; Short metatarsal; Short neck; Short nose; Small hand; Talipes equinovarus; Variable expressivity; Ventricular septal defect; Waddling gaitObesity
CASR3q13.33-q21.100%gene with protein product601199HHC, HHC1Abdominal pain; Abnormal enzyme/coenzyme activity; Abnormal pattern of respiration; Abnormal renal physiology; Abnormality of calcium-phosphate metabolism; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the thyroid gland; Alopecia; Aminoaciduria; Anemia; Anxiety; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Calcinosis; Constipation; Cortical myoclonus; Depressivity; Dry skin; Dyspnea; Elevated C-reactive protein level; Elevated circulating parathyroid hormone level; EMG abnormality; Emotional lability; Failure to thrive; Fatigable weakness; Feeding difficulties in infancy; Generalized hypotonia; Hepatomegaly; Hypercalcemia; Hypercalciuria; Hypermagnesemia; Hypermagnesiuria; Hyperparathyroidism; Hyperphosphatemia; Hyperphosphaturia; Hypocalcemia; Hypocalciuria; Hypomagnesemia; Hypophosphatemia; Hypotension; Leukocytosis; Metaphyseal irregularity; Muscle cramps; Muscular hypotonia; Narrow chest; Nephrocalcinosis; Nephrolithiasis; Pancreatitis; Paresthesia; Polydipsia; Polyuria; Primary hyperparathyroidism; Recurrent fractures; Recurrent pancreatitis; Seizures; Short stature; Splenomegaly; Tachypnea; Tetany
CASR3q13.33-q21.100%gene with protein product601199HHC, HHC1Abdominal pain; Abnormal enzyme/coenzyme activity; Abnormal pattern of respiration; Abnormal renal physiology; Abnormality of calcium-phosphate metabolism; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the thyroid gland; Alopecia; Aminoaciduria; Anemia; Anxiety; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Calcinosis; Constipation; Cortical myoclonus; Depressivity; Dry skin; Dyspnea; Elevated C-reactive protein level; Elevated circulating parathyroid hormone level; EMG abnormality; Emotional lability; Failure to thrive; Fatigable weakness; Feeding difficulties in infancy; Generalized hypotonia; Hepatomegaly; Hypercalcemia; Hypercalciuria; Hypermagnesemia; Hypermagnesiuria; Hyperparathyroidism; Hyperphosphatemia; Hyperphosphaturia; Hypocalcemia; Hypocalciuria; Hypomagnesemia; Hypophosphatemia; Hypotension; Leukocytosis; Metaphyseal irregularity; Muscle cramps; Muscular hypotonia; Narrow chest; Nephrocalcinosis; Nephrolithiasis; Pancreatitis; Paresthesia; Polydipsia; Polyuria; Primary hyperparathyroidism; Recurrent fractures; Recurrent pancreatitis; Seizures; Short stature; Splenomegaly; Tachypnea; Tetany
CCBE118q21.32100%gene with protein product612753Abnormality of dental morphology; Ascites; Atrial septal defect; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Broad forehead; Camptodactyly; Conductive hearing impairment; Conical incisor; Coronal craniosynostosis; Cryptorchidism; Cutaneous finger syndactyly; Decreased antibody level in blood; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Ectopic kidney; Epicanthus; Erysipelas; External ear malformation; Flat face; Gingival overgrowth; Glaucoma; Hirsutism; Horseshoe kidney; Hydronephrosis; Hyperactivity; Hypertelorism; Hypoalbuminemia; Hypoplastic iliac wing; Increased number of teeth; Intellectual disability; Intestinal lymphangiectasia; Joint contracture of the hand; Low-set ears; Lymphadenopathy; Lymphangioma; Lymphedema; Lymphopenia; Malabsorption; Malar flattening; Mild postnatal growth retardation; Narrow chest; Narrow mouth; Narrow palate; Oligodontia; Pachygyria; Pectus excavatum; Pericardial effusion; Pericardial lymphangiectasia; Periorbital edema; Pleural effusion; Pleural lymphangiectasia; Protein-losing enteropathy; Rectal prolapse; Recurrent respiratory infections; Reduced number of teeth; Retrognathia; Scoliosis; Seizures; Sensorineural hearing impairment; Short foot; Short palm; Small hand; Smooth philtrum; Spina bifida occulta; Splenomegaly; Talipes equinovarus; Thyroid lymphangiectasia; Umbilical hernia; Ventricular septal defect; Vesicoureteral reflux; Wide nasal bridge
CEP1205q23.2100%gene with protein product613446CCDC100Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Ambiguous genitalia; Apnea; Ataxia; Autosomal recessive inheritance; Bell-shaped thorax; Biparietal narrowing; Brachydactyly; Cerebellar vermis hypoplasia; Coarse facial features; Cone-shaped epiphysis; Cryptorchidism; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Flat acetabular roof; Gait disturbance; Global developmental delay; Horizontal ribs; Hypertelorism; Hypoplastic facial bones; Hypoplastic pelvis; Intellectual disability; Long face; Macrotia; Micromelia; Microretrognathia; Midface retrusion; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Natal tooth; Nystagmus; Oculomotor apraxia; Omphalocele; Patent ductus arteriosus; Preaxial polydactyly; Prominent nose; Pulmonary hypoplasia; Relative macrocephaly; Renal hypoplasia; Respiratory insufficiency; Retinal dystrophy; Short foot; Short ribs; Short thorax; Skeletal dysplasia; Unicoronal synostosisShort-Rib Thoracic Dysplasia
CEP1205q23.2100%gene with protein product613446CCDC100Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Ambiguous genitalia; Apnea; Ataxia; Autosomal recessive inheritance; Bell-shaped thorax; Biparietal narrowing; Brachydactyly; Cerebellar vermis hypoplasia; Coarse facial features; Cone-shaped epiphysis; Cryptorchidism; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Flat acetabular roof; Gait disturbance; Global developmental delay; Horizontal ribs; Hypertelorism; Hypoplastic facial bones; Hypoplastic pelvis; Intellectual disability; Long face; Macrotia; Micromelia; Microretrognathia; Midface retrusion; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Natal tooth; Nystagmus; Oculomotor apraxia; Omphalocele; Patent ductus arteriosus; Preaxial polydactyly; Prominent nose; Pulmonary hypoplasia; Relative macrocephaly; Renal hypoplasia; Respiratory insufficiency; Retinal dystrophy; Short foot; Short ribs; Short thorax; Skeletal dysplasia; Unicoronal synostosisShort-Rib Thoracic Dysplasia
CHST310q22.1100%gene with protein product603799Abnormal form of the vertebral bodies; Abnormality of cardiovascular system morphology; Abnormally large globe; Accelerated skeletal maturation; Amblyopia; Aortic regurgitation; Aortic root aneurysm; Aortic valve stenosis; Arthralgia; Arthropathy; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Bicuspid aortic valve; Bilateral elbow dislocations; Bilateral single transverse palmar creases; Brachycephaly; Brachydactyly; Broad distal phalanges of all fingers; Broad forehead; Camptodactyly of finger; Cardiomegaly; Cleft palate; Congenital glaucoma; Coronal cleft vertebrae; Cubitus valgus; Cutis laxa; Decreased hip abduction; Delayed eruption of teeth; Delayed gross motor development; Delayed skeletal maturation; Depressed nasal bridge; Deviation of the 5th finger; Disproportionate short-trunk short stature; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Enlarged joints; Enlarged metaphyses; Esotropia; Fixed elbow flexion; Flattened epiphysis; Flexion contracture; Frontal bossing; Generalized bone demineralization; Genu valgum; Hearing impairment; High palate; Highly arched eyebrow; Hip dislocation; Hydrocephalus; Hypermetropia; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the ulna; Intervertebral space narrowing; Irregular epiphyses; Irregular vertebral endplates; Joint laxity; Knee dislocation; Kyphoscoliosis; Left ventricular hypertrophy; Limited hip extension; Long philtrum; Low posterior hairline; Low-set ears; Lumbar hyperlordosis; Metatarsus adductus; Microdontia; Microtia; Midface retrusion; Mitral regurgitation; Mitral stenosis; Mitral valve prolapse; Motor delay; Multiple carpal ossification centers; Multiple joint dislocation; Narrow chest; Narrow mouth; Narrow vertebral interpedicular distance; Osteopenia; Patent foramen ovale; Pes planus; Prominent forehead; Pulmonary arterial hypertension; Pulmonic stenosis; Radioulnar synostosis; Rhizomelia; Scoliosis; Shield chest; Short distal phalanx of finger; Short femoral neck; Short metacarpal; Short neck; Short phalanx of finger; Shoulder dislocation; Small epiphyses; Small face; Sparse and thin eyebrow; Sparse eyebrow; Spatulate thumbs; Spondyloepiphyseal dysplasia; Talipes equinovalgus; Talipes equinovarus; Thick eyebrow; Tibial bowing; Tricuspid regurgitation; Tricuspid stenosis; Ulnar bowing; Ventricular hypertrophy; Ventricular septal defect; Waddling gait; Wide intermamillary distance; Widely spaced teeth
CLCN716p13.3100%gene with protein product602727Abnormal blistering of the skin; Abnormality of epiphysis morphology; Abnormality of hair texture; Abnormality of pelvic girdle bone morphology; Abnormality of temperature regulation; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the vertebral endplates; Abnormality of visual evoked potentials; Anemia; Arthritis; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Chronic rhinitis; Craniosynostosis; Delayed eruption of teeth; Elevated serum acid phosphatase; Facial palsy; Facial paralysis; Fractures of the long bones; Frontal bossing; Generalized osteosclerosis; Genu valgum; Growth delay; Hearing impairment; Hepatomegaly; Hepatosplenomegaly; Heterogeneous; Hip osteoarthritis; Hydrocephalus; Joint dislocation; Juvenile onset; Lymphadenopathy; Macrocephaly; Mandibular osteomyelitis; Narrow chest; Nystagmus; Opsoclonus; Optic atrophy; Optic nerve compression; Osteoarthritis; Osteopetrosis; Otitis media; Pallor; Premature loss of primary teeth; Recurrent fractures; Recurrent respiratory infections; Reduced bone mineral density; Reticulocytosis; Short distal phalanx of finger; Short stature; Splenomegaly; Tremor; Visual impairment; Visual loss
COL11A11p21.199.98%gene with protein product120280COLL6Abnormal diaphysis morphology; Abnormal form of the vertebral bodies; Abnormal vitreous humor morphology; Abnormality of the dentition; Abnormality of the metaphysis; Abnormality of the pinna; Absent frontal sinuses; Amblyopia; Anterior rib cupping; Anteverted nares; Arachnodactyly; Arthralgia; Arthropathy; Astigmatism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bifid uvula; Brachycephaly; Brachydactyly; Broad ischia; Broad long bones; Broad ribs; Calcification of falx cerebri; Camptodactyly; Cataract; Cerebral calcification; Cleft palate; Clinodactyly of the 5th finger; Congenital cataract; Corneal opacity; Coxa valga; Depressed nasal bridge; Downslanted palpebral fissures; Dumbbell-shaped long bone; Ectopia lentis; Epicanthus; Epiphyseal dysplasia; Esotropia; Femoral bowing; Fibular hypoplasia; Flat face; Frontal bossing; Genu valgum; Glaucoma; Glossoptosis; Hearing abnormality; High myopia; Hydrops fetalis; Hypertelorism; Hypohidrosis; Hypoplasia of the maxilla; Hypoplasia of the zygomatic bone; Hypoplastic fingernail; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic ischia; Hypoplastic scapulae; Hypoplastic toenails; Hypotrichosis; Irregular distal femoral epiphysis; Irregular proximal tibial epiphyses; Irregular vertebral endplates; Joint contracture of the hand; Joint hyperflexibility; Joint hypermobility; Lens luxation; Long clavicles; Long fingers; Long philtrum; Low-set ears; Macrodontia of permanent maxillary central incisor; Malar flattening; Megalocornea; Meningeal calcification; Micrognathia; Micromelia; Midface retrusion; Myopia; Narrow chest; Narrow greater sacrosciatic notches; Narrow mouth; Omphalocele; Osteoarthritis; Patent foramen ovale; Pierre-Robin sequence; Platyspondyly; Posterior rib cupping; Posterior vertebral hypoplasia; Premature birth; Proptosis; Protuberant abdomen; Radial bowing; Respiratory insufficiency; Retinal detachment; Retinopathy; Rhizomelia; Round face; Sensorineural hearing impairment; Short femur; Short foot; Short long bone; Short neck; Short nose; Short palm; Short ribs; Short stature; Small distal femoral epiphysis; Small hand; Small proximal tibial epiphyses; Spondyloepiphyseal dysplasia; Stillbirth; Thick lower lip vermilion; Thick upper lip vermilion; Thickened calvaria; Thin clavicles; Thin ribs; Thoracic hypoplasia; Ulnar bowing; Upper airway obstruction; Visual impairment; Vitreoretinal degeneration; Wide anterior fontanel; Wide nasal bridge; Wide tufts of distal phalanges; Widely patent coronal suture; Widely patent sagittal sutureEctodermal Dysplasia
COL11A11p21.199.98%gene with protein product120280COLL6Abnormal diaphysis morphology; Abnormal form of the vertebral bodies; Abnormal vitreous humor morphology; Abnormality of the dentition; Abnormality of the metaphysis; Abnormality of the pinna; Absent frontal sinuses; Amblyopia; Anterior rib cupping; Anteverted nares; Arachnodactyly; Arthralgia; Arthropathy; Astigmatism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bifid uvula; Brachycephaly; Brachydactyly; Broad ischia; Broad long bones; Broad ribs; Calcification of falx cerebri; Camptodactyly; Cataract; Cerebral calcification; Cleft palate; Clinodactyly of the 5th finger; Congenital cataract; Corneal opacity; Coxa valga; Depressed nasal bridge; Downslanted palpebral fissures; Dumbbell-shaped long bone; Ectopia lentis; Epicanthus; Epiphyseal dysplasia; Esotropia; Femoral bowing; Fibular hypoplasia; Flat face; Frontal bossing; Genu valgum; Glaucoma; Glossoptosis; Hearing abnormality; High myopia; Hydrops fetalis; Hypertelorism; Hypohidrosis; Hypoplasia of the maxilla; Hypoplasia of the zygomatic bone; Hypoplastic fingernail; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic ischia; Hypoplastic scapulae; Hypoplastic toenails; Hypotrichosis; Irregular distal femoral epiphysis; Irregular proximal tibial epiphyses; Irregular vertebral endplates; Joint contracture of the hand; Joint hyperflexibility; Joint hypermobility; Lens luxation; Long clavicles; Long fingers; Long philtrum; Low-set ears; Macrodontia of permanent maxillary central incisor; Malar flattening; Megalocornea; Meningeal calcification; Micrognathia; Micromelia; Midface retrusion; Myopia; Narrow chest; Narrow greater sacrosciatic notches; Narrow mouth; Omphalocele; Osteoarthritis; Patent foramen ovale; Pierre-Robin sequence; Platyspondyly; Posterior rib cupping; Posterior vertebral hypoplasia; Premature birth; Proptosis; Protuberant abdomen; Radial bowing; Respiratory insufficiency; Retinal detachment; Retinopathy; Rhizomelia; Round face; Sensorineural hearing impairment; Short femur; Short foot; Short long bone; Short neck; Short nose; Short palm; Short ribs; Short stature; Small distal femoral epiphysis; Small hand; Small proximal tibial epiphyses; Spondyloepiphyseal dysplasia; Stillbirth; Thick lower lip vermilion; Thick upper lip vermilion; Thickened calvaria; Thin clavicles; Thin ribs; Thoracic hypoplasia; Ulnar bowing; Upper airway obstruction; Visual impairment; Vitreoretinal degeneration; Wide anterior fontanel; Wide nasal bridge; Wide tufts of distal phalanges; Widely patent coronal suture; Widely patent sagittal sutureEctodermal Dysplasia
COL11A26p21.32100%gene with protein product120290DFNA13, DFNB53Abnormal diaphysis morphology; Abnormal form of the vertebral bodies; Abnormality of pelvic girdle bone morphology; Abnormality of the eye; Abnormality of the metaphysis; Abnormality of the skin; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Arthralgia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Beaking of vertebral bodies; Bell-shaped thorax; Brachydactyly; Broad ribs; Bulbous nose; Cleft palate; Conductive hearing impairment; Coronal cleft vertebrae; Delayed gross motor development; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Dumbbell-shaped long bone; Enlarged epiphyses; Enlarged joints; Epiphyseal dysplasia; Feeding difficulties in infancy; Flared metaphysis; Flexion contracture; Global developmental delay; Glossoptosis; Hearing abnormality; Hyperlordosis; Hypertelorism; Hypoplastic fingernail; Hypoplastic ilia; Hypoplastic ischia; Hypoplastic pubic bone; Hypoplastic scapulae; Joint stiffness; Kyphosis; Large tarsal bones; Long philtrum; Low-set ears; Lumbar hyperlordosis; Malar flattening; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mixed hearing impairment; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow mouth; Osteoarthritis; Pierre-Robin sequence; Platyspondyly; Premature osteoarthritis; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Recurrent pneumonia; Respiratory insufficiency; Rhizomelia; Round face; Sensorineural hearing impairment; Short femur; Short long bone; Short metacarpal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Submucous cleft soft palate; Thoracic hypoplasia; Wide anterior fontanel
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
CRTAP3p22.3100%gene with protein product605497Absent pulmonary artery; Autosomal recessive inheritance; Blue sclerae; Bowing of the legs; Breech presentation; Coxa vara; Crumpled long bones; Death in infancy; Decreased calvarial ossification; Delayed cranial suture closure; Externally rotated/abducted legs; Hydronephrosis; Hypoplastic pulmonary veins; Long philtrum; Micromelia; Multiple prenatal fractures; Multiple rib fractures; Narrow chest; Osteopenia; Pectus excavatum; Proptosis; Protrusio acetabuli; Recurrent fractures; Rhizomelia; Round face; Scoliosis; Vertebral compression fractures; Wide anterior fontanel; Wide cranial sutures; Wormian bones
DCHS111p15.4100%gene with protein product603057CDH25, PCDH16Age-dependent penetrance; Anal atresia; Anteriorly placed anus; Atresia of the external auditory canal; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharophimosis; Clinodactyly; Conductive hearing impairment; Congenital onset; Cortical gyral simplification; Cutaneous finger syndactyly; Dental malocclusion; Downturned corners of mouth; Epicanthus; Feeding difficulties; Generalized hypotonia; Growth delay; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplasia of the maxilla; Hypospadias; Intellectual disability; Irregular dentition; Joint laxity; Malar flattening; Micrognathia; Microtia; Midface retrusion; Mitral regurgitation; Mitral valve prolapse; Narrow chest; Narrow forehead; Osteopenia; Pachygyria; Ptosis; Renal hypoplasia; Sacral dimple; Scoliosis; Sensorineural hearing impairment; Short 4th metacarpal; Short clavicles; Short fourth metatarsal; Short palpebral fissure; Skeletal dysplasia; Talipes equinovarus; Tented upper lip vermilion; Tracheomalacia; Wide anterior fontanel; Wide cranial sutures; Wide nasal bridge
DYNC2H111q22.399.78%gene with protein product603297DNCH2Abdominal distention; Abnormal pelvis bone ossification; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Absent or minimally ossified vertebral bodies; Ambiguous genitalia; Brachydactyly; Cleft upper lip; Cone-shaped epiphysis; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Disproportionate short-limb short stature; Epicanthus; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypoplasia of penis; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Micrognathia; Micromelia; Narrow chest; Postaxial hand polydactyly; Renal hypoplasia; Respiratory insufficiency; Short foot; Short palm; Short ribs; Short thorax; Skeletal dysplasia; Urethrovaginal fistula; Uterus didelphys; Wide noseDisorders of Sex Development; Heterotaxy ; Short-Rib Thoracic Dysplasia
DYNC2H111q22.399.78%gene with protein product603297DNCH2Abdominal distention; Abnormal pelvis bone ossification; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Absent or minimally ossified vertebral bodies; Ambiguous genitalia; Brachydactyly; Cleft upper lip; Cone-shaped epiphysis; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Disproportionate short-limb short stature; Epicanthus; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypoplasia of penis; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Micrognathia; Micromelia; Narrow chest; Postaxial hand polydactyly; Renal hypoplasia; Respiratory insufficiency; Short foot; Short palm; Short ribs; Short thorax; Skeletal dysplasia; Urethrovaginal fistula; Uterus didelphys; Wide noseDisorders of Sex Development; Heterotaxy ; Short-Rib Thoracic Dysplasia
DYNC2LI12p21100%gene with protein product617083Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cone-shaped epiphysis; Conical incisor; Cryptorchidism; Depressed nasal bridge; Downslanted palpebral fissures; Epicanthus; Epispadias; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Hepatomegaly; Horizontal ribs; Hypodontia; Hypoplastic toenails; Hypospadias; Intrauterine growth retardation; Low-set ears; Microdontia; Micromelia; Nail dysplasia; Narrow chest; Neonatal short-limb short stature; Polyhydramnios; Postaxial hand polydactyly; Respiratory insufficiency; Short distal phalanx of finger; Short foot; Short ribs; Short stature; Short thorax; Situs inversus totalis; Skeletal dysplasia; Splenomegaly; Strabismus; Ventricular septal defectHeterotaxy ; Short-Rib Thoracic Dysplasia
DYNC2LI12p21100%gene with protein product617083Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cone-shaped epiphysis; Conical incisor; Cryptorchidism; Depressed nasal bridge; Downslanted palpebral fissures; Epicanthus; Epispadias; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Hepatomegaly; Horizontal ribs; Hypodontia; Hypoplastic toenails; Hypospadias; Intrauterine growth retardation; Low-set ears; Microdontia; Micromelia; Nail dysplasia; Narrow chest; Neonatal short-limb short stature; Polyhydramnios; Postaxial hand polydactyly; Respiratory insufficiency; Short distal phalanx of finger; Short foot; Short ribs; Short stature; Short thorax; Situs inversus totalis; Skeletal dysplasia; Splenomegaly; Strabismus; Ventricular septal defectHeterotaxy ; Short-Rib Thoracic Dysplasia
EVC4p16.299.83%gene with protein product604831Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the alveolar ridges; Abnormality of the antihelix; Abnormality of the fingernails; Acetabular spurs; Advanced eruption of teeth; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cleft upper lip; Clinodactyly of the 5th finger; Common atrium; Cone-shaped epiphyses of phalanges 2 to 5; Conical incisor; Conical tooth; Cryptorchidism; Dandy-Walker malformation; Delayed eruption of teeth; Ectodermal dysplasia; Epispadias; Facial cleft; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Horizontal ribs; Hypodontia; Hypoplastic iliac wing; Hypoplastic toenails; Hypospadias; Hypotelorism; Intrauterine growth retardation; Microdontia; Micromelia; Mild short stature; Nail dysplasia; Nail dystrophy; Narrow chest; Natal tooth; Neonatal short-limb short stature; Overlapping fingers; Pectus carinatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Prominent antihelix; Short distal phalanx of finger; Short long bone; Short palm; Short ribs; Short thorax; Single median maxillary incisor; Situs inversus totalis; Small hand; Small nail; Strabismus; Talipes equinovarus; Toenail dysplasia; Ventricular septal defectEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
EVC4p16.299.83%gene with protein product604831Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the alveolar ridges; Abnormality of the antihelix; Abnormality of the fingernails; Acetabular spurs; Advanced eruption of teeth; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cleft upper lip; Clinodactyly of the 5th finger; Common atrium; Cone-shaped epiphyses of phalanges 2 to 5; Conical incisor; Conical tooth; Cryptorchidism; Dandy-Walker malformation; Delayed eruption of teeth; Ectodermal dysplasia; Epispadias; Facial cleft; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Horizontal ribs; Hypodontia; Hypoplastic iliac wing; Hypoplastic toenails; Hypospadias; Hypotelorism; Intrauterine growth retardation; Microdontia; Micromelia; Mild short stature; Nail dysplasia; Nail dystrophy; Narrow chest; Natal tooth; Neonatal short-limb short stature; Overlapping fingers; Pectus carinatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Prominent antihelix; Short distal phalanx of finger; Short long bone; Short palm; Short ribs; Short thorax; Single median maxillary incisor; Situs inversus totalis; Small hand; Small nail; Strabismus; Talipes equinovarus; Toenail dysplasia; Ventricular septal defectEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
EVC24p16.2100%gene with protein product607261Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the alveolar ridges; Abnormality of the antihelix; Abnormality of the fingernails; Acetabular spurs; Advanced eruption of teeth; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cleft upper lip; Clinodactyly of the 5th finger; Common atrium; Cone-shaped epiphyses of phalanges 2 to 5; Conical incisor; Conical tooth; Cryptorchidism; Dandy-Walker malformation; Delayed eruption of teeth; Ectodermal dysplasia; Epispadias; Facial cleft; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Horizontal ribs; Hypodontia; Hypoplastic iliac wing; Hypoplastic toenails; Hypospadias; Hypotelorism; Intrauterine growth retardation; Microdontia; Micromelia; Mild short stature; Nail dysplasia; Nail dystrophy; Narrow chest; Natal tooth; Neonatal short-limb short stature; Overlapping fingers; Pectus carinatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Prominent antihelix; Short distal phalanx of finger; Short long bone; Short palm; Short ribs; Short thorax; Single median maxillary incisor; Situs inversus totalis; Small hand; Small nail; Strabismus; Talipes equinovarus; Toenail dysplasia; Ventricular septal defectEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
EVC24p16.2100%gene with protein product607261Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the alveolar ridges; Abnormality of the antihelix; Abnormality of the fingernails; Acetabular spurs; Advanced eruption of teeth; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cleft upper lip; Clinodactyly of the 5th finger; Common atrium; Cone-shaped epiphyses of phalanges 2 to 5; Conical incisor; Conical tooth; Cryptorchidism; Dandy-Walker malformation; Delayed eruption of teeth; Ectodermal dysplasia; Epispadias; Facial cleft; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Horizontal ribs; Hypodontia; Hypoplastic iliac wing; Hypoplastic toenails; Hypospadias; Hypotelorism; Intrauterine growth retardation; Microdontia; Micromelia; Mild short stature; Nail dysplasia; Nail dystrophy; Narrow chest; Natal tooth; Neonatal short-limb short stature; Overlapping fingers; Pectus carinatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Prominent antihelix; Short distal phalanx of finger; Short long bone; Short palm; Short ribs; Short thorax; Single median maxillary incisor; Situs inversus totalis; Small hand; Small nail; Strabismus; Talipes equinovarus; Toenail dysplasia; Ventricular septal defectEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
FAT44q28.1100%gene with protein product612411Abnormality of dental morphology; Ascites; Atresia of the external auditory canal; Autosomal recessive inheritance; Bifid scrotum; Blepharophimosis; Broad forehead; Clinodactyly; Conductive hearing impairment; Congenital onset; Cryptorchidism; Cutaneous finger syndactyly; Decreased antibody level in blood; Delayed eruption of teeth; Dental malocclusion; Depressed nasal bridge; Downturned corners of mouth; Epicanthus; Erysipelas; External ear malformation; Feeding difficulties; Flat face; Generalized hypotonia; Gingival overgrowth; Glaucoma; Growth delay; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplasia of the maxilla; Hypospadias; Increased number of teeth; Intellectual disability; Irregular dentition; Joint laxity; Low-set ears; Lymphadenopathy; Lymphangioma; Lymphedema; Lymphopenia; Malabsorption; Malar flattening; Micrognathia; Micropenis; Microtia; Midface retrusion; Mild postnatal growth retardation; Narrow chest; Narrow forehead; Osteopenia; Pericardial lymphangiectasia; Ptosis; Pulmonary lymphangiectasia; Recurrent respiratory infections; Reduced number of teeth; Renal hypoplasia; Sacral dimple; Scoliosis; Seizures; Sensorineural hearing impairment; Short 4th metacarpal; Short clavicles; Short fourth metatarsal; Short palpebral fissure; Skeletal dysplasia; Splenomegaly; Talipes equinovarus; Tented upper lip vermilion; Tracheomalacia; Wide anterior fontanel; Wide cranial sutures; Wide nasal bridgeDisorders of Sex Development
FAT44q28.1100%gene with protein product612411Abnormality of dental morphology; Ascites; Atresia of the external auditory canal; Autosomal recessive inheritance; Bifid scrotum; Blepharophimosis; Broad forehead; Clinodactyly; Conductive hearing impairment; Congenital onset; Cryptorchidism; Cutaneous finger syndactyly; Decreased antibody level in blood; Delayed eruption of teeth; Dental malocclusion; Depressed nasal bridge; Downturned corners of mouth; Epicanthus; Erysipelas; External ear malformation; Feeding difficulties; Flat face; Generalized hypotonia; Gingival overgrowth; Glaucoma; Growth delay; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplasia of the maxilla; Hypospadias; Increased number of teeth; Intellectual disability; Irregular dentition; Joint laxity; Low-set ears; Lymphadenopathy; Lymphangioma; Lymphedema; Lymphopenia; Malabsorption; Malar flattening; Micrognathia; Micropenis; Microtia; Midface retrusion; Mild postnatal growth retardation; Narrow chest; Narrow forehead; Osteopenia; Pericardial lymphangiectasia; Ptosis; Pulmonary lymphangiectasia; Recurrent respiratory infections; Reduced number of teeth; Renal hypoplasia; Sacral dimple; Scoliosis; Seizures; Sensorineural hearing impairment; Short 4th metacarpal; Short clavicles; Short fourth metatarsal; Short palpebral fissure; Skeletal dysplasia; Splenomegaly; Talipes equinovarus; Tented upper lip vermilion; Tracheomalacia; Wide anterior fontanel; Wide cranial sutures; Wide nasal bridgeDisorders of Sex Development
FGFR210q26.13100%gene with protein product176943KGFR, BEK, CFD1, JWS2-3 finger syndactyly; 2-3 toe syndactyly; Abnormal facial shape; Abnormal heart morphology; Abnormal morphology of the limbic system; Abnormal morphology of the nasolacrimal system; Abnormal renal morphology; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the nasopharynx; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the periosteum; Abnormality of the pinna; Abnormality of the ribs; Absence of Stensen duct; Absent first metatarsal; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Absent septum pellucidum; Acanthosis nigricans; Acne; Acrobrachycephaly; Agenesis of corpus callosum; Alacrima; Anomalous tracheal cartilage; Anteriorly placed anus; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thumb; Aqueductal stenosis; Arachnodactyly; Arachnoid cyst; Arnold-Chiari malformation; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bicoronal synostosis; Bifid scrotum; Bifid uvula; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Brachycephaly; Brachydactyly; Brachyturricephaly; Breast carcinoma; Broad distal hallux; Broad distal phalanx of the thumb; Broad forehead; Broad hallux; Broad hallux phalanx; Broad metatarsal; Broad thumb; Bronchomalacia; Buphthalmos; Calcaneonavicular fusion; Camptodactyly; Camptodactyly of finger; Carious teeth; Cartilaginous trachea; Cerebellar hypoplasia; Cervical C5/C6 vertebrae fusion; Choanal atresia; Choanal stenosis; Chronic otitis media; Cleft of chin; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital stationary night blindness; Conical incisor; Conjunctivitis; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniofacial dysostosis; Craniosynostosis; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dacryocystitis; Decreased calvarial ossification; Delayed cranial suture closure; Delayed eruption of primary teeth; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Deviation of the thumb; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Ectopic anus; Elbow ankylosis; Esophageal atresia; External ear malformation; Extramedullary hematopoiesis; Facial asymmetry; Feeding difficulties in infancy; Femoral bowing; Finger syndactyly; Flat face; Flat forehead; Frontal bossing; Fused labia minora; Gingival overgrowth; Global developmental delay; Growth abnormality; Hallux valgus; Hallux varus; Hearing abnormality; Hearing impairment; High forehead; High palate; Hirsutism; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hyperextensible skin; Hyperlordosis; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplasia of the zygomatic bone; Hypoplastic ischia; Hypoplastic labia majora; Hypoplastic lacrimal duct; Incomplete ossification of pubis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intellectual disability, mild; Intellectual disability, moderate; Joint stiffness; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lambdoidal craniosynostosis; Large fontanelles; Laryngomalacia; Limitation of joint mobility; Limited elbow extension; Long nose; Long philtrum; Low anterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Megalencephaly; Megalocornea; Melanocytic nevus; Metopic depression; Micrognathia; Microtia; Midface retrusion; Mixed hearing impairment; Morphological abnormality of the semicircular canal; Multiple suture craniosynostosis; Narrow chest; Narrow internal auditory canal; Narrow nose; Narrow palate; Narrow pelvis bone; Nasolacrimal duct obstruction; Natal tooth; Nephrosclerosis; Open bite; Optic atrophy; Osteopenia; Overfolding of the superior helices; Overriding aorta; Oxycephaly; Palmoplantar cutis gyrata; Palmoplantar cutis laxa; Palmoplantar keratoderma; Parietal foramina; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Partial duplication of thumb phalanx; Periorbital fullness; Plagiocephaly; Posterior fossa cyst; Preauricular skin furrow; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Prominent scrotal raphe; Proptosis; Ptosis; Pyloric stenosis; Radial deviation of the 3rd finger; Radioulnar synostosis; Recurrent corneal erosions; Reduced number of teeth; Renal agenesis; Respiratory distress; Rocker bottom foot; Sagittal craniosynostosis; Seizures; Shallow orbits; Short clavicles; Short foot; Short hallux; Short metatarsal; Short middle phalanx of toe; Short nose; Short palm; Short stature; Shortening of all middle phalanges of the fingers; Skull asymmetry; Sleep apnea; Small hand; Small nail; Small thenar eminence; Somatic mutation; Steep acetabular roof; Stenosis of the external auditory canal; Stomach cancer; Strabismus; Subcutaneous nodule; Syndactyly; Synostosis of carpal bones; Telecanthus; Toe syndactyly; Tracheomalacia; Turricephaly; Ulnar bowing; Underdeveloped supraorbital ridges; Upper airway obstruction; Vaginal atresia; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide anterior fontanel; XerostomiaDisorders of Sex Development; Short-Rib Thoracic Dysplasia
FGFR210q26.13100%gene with protein product176943KGFR, BEK, CFD1, JWS2-3 finger syndactyly; 2-3 toe syndactyly; Abnormal facial shape; Abnormal heart morphology; Abnormal morphology of the limbic system; Abnormal morphology of the nasolacrimal system; Abnormal renal morphology; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the nasopharynx; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the periosteum; Abnormality of the pinna; Abnormality of the ribs; Absence of Stensen duct; Absent first metatarsal; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Absent septum pellucidum; Acanthosis nigricans; Acne; Acrobrachycephaly; Agenesis of corpus callosum; Alacrima; Anomalous tracheal cartilage; Anteriorly placed anus; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thumb; Aqueductal stenosis; Arachnodactyly; Arachnoid cyst; Arnold-Chiari malformation; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bicoronal synostosis; Bifid scrotum; Bifid uvula; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Brachycephaly; Brachydactyly; Brachyturricephaly; Breast carcinoma; Broad distal hallux; Broad distal phalanx of the thumb; Broad forehead; Broad hallux; Broad hallux phalanx; Broad metatarsal; Broad thumb; Bronchomalacia; Buphthalmos; Calcaneonavicular fusion; Camptodactyly; Camptodactyly of finger; Carious teeth; Cartilaginous trachea; Cerebellar hypoplasia; Cervical C5/C6 vertebrae fusion; Choanal atresia; Choanal stenosis; Chronic otitis media; Cleft of chin; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital stationary night blindness; Conical incisor; Conjunctivitis; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniofacial dysostosis; Craniosynostosis; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dacryocystitis; Decreased calvarial ossification; Delayed cranial suture closure; Delayed eruption of primary teeth; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Deviation of the thumb; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Ectopic anus; Elbow ankylosis; Esophageal atresia; External ear malformation; Extramedullary hematopoiesis; Facial asymmetry; Feeding difficulties in infancy; Femoral bowing; Finger syndactyly; Flat face; Flat forehead; Frontal bossing; Fused labia minora; Gingival overgrowth; Global developmental delay; Growth abnormality; Hallux valgus; Hallux varus; Hearing abnormality; Hearing impairment; High forehead; High palate; Hirsutism; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hyperextensible skin; Hyperlordosis; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplasia of the zygomatic bone; Hypoplastic ischia; Hypoplastic labia majora; Hypoplastic lacrimal duct; Incomplete ossification of pubis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intellectual disability, mild; Intellectual disability, moderate; Joint stiffness; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lambdoidal craniosynostosis; Large fontanelles; Laryngomalacia; Limitation of joint mobility; Limited elbow extension; Long nose; Long philtrum; Low anterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Megalencephaly; Megalocornea; Melanocytic nevus; Metopic depression; Micrognathia; Microtia; Midface retrusion; Mixed hearing impairment; Morphological abnormality of the semicircular canal; Multiple suture craniosynostosis; Narrow chest; Narrow internal auditory canal; Narrow nose; Narrow palate; Narrow pelvis bone; Nasolacrimal duct obstruction; Natal tooth; Nephrosclerosis; Open bite; Optic atrophy; Osteopenia; Overfolding of the superior helices; Overriding aorta; Oxycephaly; Palmoplantar cutis gyrata; Palmoplantar cutis laxa; Palmoplantar keratoderma; Parietal foramina; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Partial duplication of thumb phalanx; Periorbital fullness; Plagiocephaly; Posterior fossa cyst; Preauricular skin furrow; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Prominent scrotal raphe; Proptosis; Ptosis; Pyloric stenosis; Radial deviation of the 3rd finger; Radioulnar synostosis; Recurrent corneal erosions; Reduced number of teeth; Renal agenesis; Respiratory distress; Rocker bottom foot; Sagittal craniosynostosis; Seizures; Shallow orbits; Short clavicles; Short foot; Short hallux; Short metatarsal; Short middle phalanx of toe; Short nose; Short palm; Short stature; Shortening of all middle phalanges of the fingers; Skull asymmetry; Sleep apnea; Small hand; Small nail; Small thenar eminence; Somatic mutation; Steep acetabular roof; Stenosis of the external auditory canal; Stomach cancer; Strabismus; Subcutaneous nodule; Syndactyly; Synostosis of carpal bones; Telecanthus; Toe syndactyly; Tracheomalacia; Turricephaly; Ulnar bowing; Underdeveloped supraorbital ridges; Upper airway obstruction; Vaginal atresia; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide anterior fontanel; XerostomiaDisorders of Sex Development; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
FLNAXq2899.99%gene with protein product300017FLN1, FLN, OPD2, OPD1Abdominal distention; Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormal facial shape; Abnormal foot bone ossification; Abnormal form of the vertebral bodies; Abnormal hand bone ossification; Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormal vertebral segmentation and fusion; Abnormality of dental morphology; Abnormality of metabolism/homeostasis; Abnormality of neuronal migration; Abnormality of skin pigmentation; Abnormality of the coagulation cascade; Abnormality of the fifth metatarsal bone; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the ribs; Absent frontal sinuses; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Accessory carpal bones; Anisospondyly; Ankle contracture; Anodontia; Antegonial notching of mandible; Anterior concavity of thoracic vertebrae; Anteriorly placed odontoid process; Aortic regurgitation; Arachnodactyly; Bicuspid aortic valve; Bipartite calcaneus; Bowing of the long bones; Brachydactyly; Broad distal phalanx of the thumb; Broad face; Broad forehead; Broad hallux; Broad phalanges of the hand; Broad thumb; Bulbous tips of toes; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Cerebellar hypoplasia; Cleft palate; Coarse facial features; Coarse hair; Coat hanger sign of ribs; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Congenital hip dislocation; Congestive heart failure; Constipation; Cor pulmonale; Coxa valga; Craniofacial hyperostosis; Cryptorchidism; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Facial asymmetry; Failure to thrive; Feeding difficulties in infancy; Femoral bowing; Fibroma; Fibular aplasia; Flared iliac wings; Flared metaphysis; Flat face; Focal seizures; Frontal bossing; Frontal hirsutism; Full cheeks; Fused cervical vertebrae; Gait disturbance; Gastroesophageal reflux; Genu valgum; Global developmental delay; Glossoptosis; Hearing impairment; Hernia; Heterotopia; High palate; Hip dislocation; Hirsutism; Hoarse voice; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the musculature; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic scapulae; Hypospadias; Hypotrichosis; Increased bone mineral density; Increased density of long bone diaphyses; Increased mean platelet volume; Increased size of the mandible; Infantile onset; Intellectual disability; Intellectual disability, mild; Intestinal hypoplasia; Intestinal malrotation; Intestinal pseudo-obstruction; Iris coloboma; Irregular metacarpals; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Large fontanelles; Large foramen magnum; Large forehead; Lateral femoral bowing; Limitation of joint mobility; Limited elbow extension; Limited knee flexion; Lipoatrophy; Localized skin lesion; Long fingers; Long foot; Long metacarpals; Long neck; Long phalanx of finger; Low-set ears; Macrotia; Malar flattening; Micrognathia; Midface retrusion; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Motor delay; Multiple impacted teeth; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow chest; Narrow mouth; Neonatal hypotonia; Nonossified fifth metatarsal; Obtuse angle of mandible; Oligodontia; Omphalocele; Osteolytic defects of the phalanges of the hand; Overlapping fingers; Partial fusion of carpals; Partial fusion of tarsals; Patent ductus arteriosus; Pectus excavatum; Periventricular gray matter heterotopia; Persistence of primary teeth; Pes planus; Pierre-Robin sequence; Platyspondyly; Pointed chin; Postaxial hand polydactyly; Posterior vertebral hypoplasia; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Prominent occiput; Prominent supraorbital ridges; Proptosis; Proximal placement of thumb; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Pyloric stenosis; Radial bowing; Radial deviation of the 2nd finger; Recurrent otitis media; Recurrent respiratory infections; Reduced number of teeth; Respiratory failure; Rocker bottom foot; Rudimentary fibula; Sandal gap; Scapular winging; Sclerosis of skull base; Scoliosis; Seizures; Selective tooth agenesis; Sensorineural hearing impairment; Short 3rd metacarpal; Short 4th metacarpal; Short 5th metacarpal; Short chin; Short chordae tendineae of the mitral valve; Short chordae tendineae of the tricuspid valve; Short clavicles; Short distal phalanx of finger; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short nose; Short palm; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Small face; Smooth philtrum; Spondylolysis; Stillbirth; Strabismus; Stridor; Stroke; Synostosis of carpal bones; Talipes equinovarus; Thick skull base; Thickened calvaria; Thin skin; Thrombocytopenia; Tibial bowing; Toe clinodactyly; Toe syndactyly; Tricuspid regurgitation; Tricuspid valve prolapse; Ulnar bowing; Ulnar deviation of finger; Underdeveloped superior crus of antihelix; Undulate clavicles; Ureteral obstruction; Ureteral stenosis; Vertical clivus; Vesicoureteral reflux; Vomiting; Wide anterior fontanel; Wide nasal bridge; Wormian bones; Wrist flexion contracture; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
FLNAXq2899.99%gene with protein product300017FLN1, FLN, OPD2, OPD1Abdominal distention; Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormal facial shape; Abnormal foot bone ossification; Abnormal form of the vertebral bodies; Abnormal hand bone ossification; Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormal vertebral segmentation and fusion; Abnormality of dental morphology; Abnormality of metabolism/homeostasis; Abnormality of neuronal migration; Abnormality of skin pigmentation; Abnormality of the coagulation cascade; Abnormality of the fifth metatarsal bone; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the ribs; Absent frontal sinuses; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Accessory carpal bones; Anisospondyly; Ankle contracture; Anodontia; Antegonial notching of mandible; Anterior concavity of thoracic vertebrae; Anteriorly placed odontoid process; Aortic regurgitation; Arachnodactyly; Bicuspid aortic valve; Bipartite calcaneus; Bowing of the long bones; Brachydactyly; Broad distal phalanx of the thumb; Broad face; Broad forehead; Broad hallux; Broad phalanges of the hand; Broad thumb; Bulbous tips of toes; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Cerebellar hypoplasia; Cleft palate; Coarse facial features; Coarse hair; Coat hanger sign of ribs; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Congenital hip dislocation; Congestive heart failure; Constipation; Cor pulmonale; Coxa valga; Craniofacial hyperostosis; Cryptorchidism; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Facial asymmetry; Failure to thrive; Feeding difficulties in infancy; Femoral bowing; Fibroma; Fibular aplasia; Flared iliac wings; Flared metaphysis; Flat face; Focal seizures; Frontal bossing; Frontal hirsutism; Full cheeks; Fused cervical vertebrae; Gait disturbance; Gastroesophageal reflux; Genu valgum; Global developmental delay; Glossoptosis; Hearing impairment; Hernia; Heterotopia; High palate; Hip dislocation; Hirsutism; Hoarse voice; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the musculature; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic scapulae; Hypospadias; Hypotrichosis; Increased bone mineral density; Increased density of long bone diaphyses; Increased mean platelet volume; Increased size of the mandible; Infantile onset; Intellectual disability; Intellectual disability, mild; Intestinal hypoplasia; Intestinal malrotation; Intestinal pseudo-obstruction; Iris coloboma; Irregular metacarpals; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Large fontanelles; Large foramen magnum; Large forehead; Lateral femoral bowing; Limitation of joint mobility; Limited elbow extension; Limited knee flexion; Lipoatrophy; Localized skin lesion; Long fingers; Long foot; Long metacarpals; Long neck; Long phalanx of finger; Low-set ears; Macrotia; Malar flattening; Micrognathia; Midface retrusion; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Motor delay; Multiple impacted teeth; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow chest; Narrow mouth; Neonatal hypotonia; Nonossified fifth metatarsal; Obtuse angle of mandible; Oligodontia; Omphalocele; Osteolytic defects of the phalanges of the hand; Overlapping fingers; Partial fusion of carpals; Partial fusion of tarsals; Patent ductus arteriosus; Pectus excavatum; Periventricular gray matter heterotopia; Persistence of primary teeth; Pes planus; Pierre-Robin sequence; Platyspondyly; Pointed chin; Postaxial hand polydactyly; Posterior vertebral hypoplasia; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Prominent occiput; Prominent supraorbital ridges; Proptosis; Proximal placement of thumb; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Pyloric stenosis; Radial bowing; Radial deviation of the 2nd finger; Recurrent otitis media; Recurrent respiratory infections; Reduced number of teeth; Respiratory failure; Rocker bottom foot; Rudimentary fibula; Sandal gap; Scapular winging; Sclerosis of skull base; Scoliosis; Seizures; Selective tooth agenesis; Sensorineural hearing impairment; Short 3rd metacarpal; Short 4th metacarpal; Short 5th metacarpal; Short chin; Short chordae tendineae of the mitral valve; Short chordae tendineae of the tricuspid valve; Short clavicles; Short distal phalanx of finger; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short nose; Short palm; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Small face; Smooth philtrum; Spondylolysis; Stillbirth; Strabismus; Stridor; Stroke; Synostosis of carpal bones; Talipes equinovarus; Thick skull base; Thickened calvaria; Thin skin; Thrombocytopenia; Tibial bowing; Toe clinodactyly; Toe syndactyly; Tricuspid regurgitation; Tricuspid valve prolapse; Ulnar bowing; Ulnar deviation of finger; Underdeveloped superior crus of antihelix; Undulate clavicles; Ureteral obstruction; Ureteral stenosis; Vertical clivus; Vesicoureteral reflux; Vomiting; Wide anterior fontanel; Wide nasal bridge; Wormian bones; Wrist flexion contracture; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
FLNAXq2899.99%gene with protein product300017FLN1, FLN, OPD2, OPD1Abdominal distention; Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormal facial shape; Abnormal foot bone ossification; Abnormal form of the vertebral bodies; Abnormal hand bone ossification; Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormal vertebral segmentation and fusion; Abnormality of dental morphology; Abnormality of metabolism/homeostasis; Abnormality of neuronal migration; Abnormality of skin pigmentation; Abnormality of the coagulation cascade; Abnormality of the fifth metatarsal bone; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the ribs; Absent frontal sinuses; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Accessory carpal bones; Anisospondyly; Ankle contracture; Anodontia; Antegonial notching of mandible; Anterior concavity of thoracic vertebrae; Anteriorly placed odontoid process; Aortic regurgitation; Arachnodactyly; Bicuspid aortic valve; Bipartite calcaneus; Bowing of the long bones; Brachydactyly; Broad distal phalanx of the thumb; Broad face; Broad forehead; Broad hallux; Broad phalanges of the hand; Broad thumb; Bulbous tips of toes; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Cerebellar hypoplasia; Cleft palate; Coarse facial features; Coarse hair; Coat hanger sign of ribs; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Congenital hip dislocation; Congestive heart failure; Constipation; Cor pulmonale; Coxa valga; Craniofacial hyperostosis; Cryptorchidism; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Facial asymmetry; Failure to thrive; Feeding difficulties in infancy; Femoral bowing; Fibroma; Fibular aplasia; Flared iliac wings; Flared metaphysis; Flat face; Focal seizures; Frontal bossing; Frontal hirsutism; Full cheeks; Fused cervical vertebrae; Gait disturbance; Gastroesophageal reflux; Genu valgum; Global developmental delay; Glossoptosis; Hearing impairment; Hernia; Heterotopia; High palate; Hip dislocation; Hirsutism; Hoarse voice; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the musculature; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic scapulae; Hypospadias; Hypotrichosis; Increased bone mineral density; Increased density of long bone diaphyses; Increased mean platelet volume; Increased size of the mandible; Infantile onset; Intellectual disability; Intellectual disability, mild; Intestinal hypoplasia; Intestinal malrotation; Intestinal pseudo-obstruction; Iris coloboma; Irregular metacarpals; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Large fontanelles; Large foramen magnum; Large forehead; Lateral femoral bowing; Limitation of joint mobility; Limited elbow extension; Limited knee flexion; Lipoatrophy; Localized skin lesion; Long fingers; Long foot; Long metacarpals; Long neck; Long phalanx of finger; Low-set ears; Macrotia; Malar flattening; Micrognathia; Midface retrusion; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Motor delay; Multiple impacted teeth; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow chest; Narrow mouth; Neonatal hypotonia; Nonossified fifth metatarsal; Obtuse angle of mandible; Oligodontia; Omphalocele; Osteolytic defects of the phalanges of the hand; Overlapping fingers; Partial fusion of carpals; Partial fusion of tarsals; Patent ductus arteriosus; Pectus excavatum; Periventricular gray matter heterotopia; Persistence of primary teeth; Pes planus; Pierre-Robin sequence; Platyspondyly; Pointed chin; Postaxial hand polydactyly; Posterior vertebral hypoplasia; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Prominent occiput; Prominent supraorbital ridges; Proptosis; Proximal placement of thumb; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Pyloric stenosis; Radial bowing; Radial deviation of the 2nd finger; Recurrent otitis media; Recurrent respiratory infections; Reduced number of teeth; Respiratory failure; Rocker bottom foot; Rudimentary fibula; Sandal gap; Scapular winging; Sclerosis of skull base; Scoliosis; Seizures; Selective tooth agenesis; Sensorineural hearing impairment; Short 3rd metacarpal; Short 4th metacarpal; Short 5th metacarpal; Short chin; Short chordae tendineae of the mitral valve; Short chordae tendineae of the tricuspid valve; Short clavicles; Short distal phalanx of finger; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short nose; Short palm; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Small face; Smooth philtrum; Spondylolysis; Stillbirth; Strabismus; Stridor; Stroke; Synostosis of carpal bones; Talipes equinovarus; Thick skull base; Thickened calvaria; Thin skin; Thrombocytopenia; Tibial bowing; Toe clinodactyly; Toe syndactyly; Tricuspid regurgitation; Tricuspid valve prolapse; Ulnar bowing; Ulnar deviation of finger; Underdeveloped superior crus of antihelix; Undulate clavicles; Ureteral obstruction; Ureteral stenosis; Vertical clivus; Vesicoureteral reflux; Vomiting; Wide anterior fontanel; Wide nasal bridge; Wormian bones; Wrist flexion contracture; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
FLNAXq2899.99%gene with protein product300017FLN1, FLN, OPD2, OPD1Abdominal distention; Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormal facial shape; Abnormal foot bone ossification; Abnormal form of the vertebral bodies; Abnormal hand bone ossification; Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormal vertebral segmentation and fusion; Abnormality of dental morphology; Abnormality of metabolism/homeostasis; Abnormality of neuronal migration; Abnormality of skin pigmentation; Abnormality of the coagulation cascade; Abnormality of the fifth metatarsal bone; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the ribs; Absent frontal sinuses; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Accessory carpal bones; Anisospondyly; Ankle contracture; Anodontia; Antegonial notching of mandible; Anterior concavity of thoracic vertebrae; Anteriorly placed odontoid process; Aortic regurgitation; Arachnodactyly; Bicuspid aortic valve; Bipartite calcaneus; Bowing of the long bones; Brachydactyly; Broad distal phalanx of the thumb; Broad face; Broad forehead; Broad hallux; Broad phalanges of the hand; Broad thumb; Bulbous tips of toes; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Cerebellar hypoplasia; Cleft palate; Coarse facial features; Coarse hair; Coat hanger sign of ribs; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Congenital hip dislocation; Congestive heart failure; Constipation; Cor pulmonale; Coxa valga; Craniofacial hyperostosis; Cryptorchidism; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Facial asymmetry; Failure to thrive; Feeding difficulties in infancy; Femoral bowing; Fibroma; Fibular aplasia; Flared iliac wings; Flared metaphysis; Flat face; Focal seizures; Frontal bossing; Frontal hirsutism; Full cheeks; Fused cervical vertebrae; Gait disturbance; Gastroesophageal reflux; Genu valgum; Global developmental delay; Glossoptosis; Hearing impairment; Hernia; Heterotopia; High palate; Hip dislocation; Hirsutism; Hoarse voice; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the musculature; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic scapulae; Hypospadias; Hypotrichosis; Increased bone mineral density; Increased density of long bone diaphyses; Increased mean platelet volume; Increased size of the mandible; Infantile onset; Intellectual disability; Intellectual disability, mild; Intestinal hypoplasia; Intestinal malrotation; Intestinal pseudo-obstruction; Iris coloboma; Irregular metacarpals; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Large fontanelles; Large foramen magnum; Large forehead; Lateral femoral bowing; Limitation of joint mobility; Limited elbow extension; Limited knee flexion; Lipoatrophy; Localized skin lesion; Long fingers; Long foot; Long metacarpals; Long neck; Long phalanx of finger; Low-set ears; Macrotia; Malar flattening; Micrognathia; Midface retrusion; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Motor delay; Multiple impacted teeth; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow chest; Narrow mouth; Neonatal hypotonia; Nonossified fifth metatarsal; Obtuse angle of mandible; Oligodontia; Omphalocele; Osteolytic defects of the phalanges of the hand; Overlapping fingers; Partial fusion of carpals; Partial fusion of tarsals; Patent ductus arteriosus; Pectus excavatum; Periventricular gray matter heterotopia; Persistence of primary teeth; Pes planus; Pierre-Robin sequence; Platyspondyly; Pointed chin; Postaxial hand polydactyly; Posterior vertebral hypoplasia; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Prominent occiput; Prominent supraorbital ridges; Proptosis; Proximal placement of thumb; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Pyloric stenosis; Radial bowing; Radial deviation of the 2nd finger; Recurrent otitis media; Recurrent respiratory infections; Reduced number of teeth; Respiratory failure; Rocker bottom foot; Rudimentary fibula; Sandal gap; Scapular winging; Sclerosis of skull base; Scoliosis; Seizures; Selective tooth agenesis; Sensorineural hearing impairment; Short 3rd metacarpal; Short 4th metacarpal; Short 5th metacarpal; Short chin; Short chordae tendineae of the mitral valve; Short chordae tendineae of the tricuspid valve; Short clavicles; Short distal phalanx of finger; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short nose; Short palm; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Small face; Smooth philtrum; Spondylolysis; Stillbirth; Strabismus; Stridor; Stroke; Synostosis of carpal bones; Talipes equinovarus; Thick skull base; Thickened calvaria; Thin skin; Thrombocytopenia; Tibial bowing; Toe clinodactyly; Toe syndactyly; Tricuspid regurgitation; Tricuspid valve prolapse; Ulnar bowing; Ulnar deviation of finger; Underdeveloped superior crus of antihelix; Undulate clavicles; Ureteral obstruction; Ureteral stenosis; Vertical clivus; Vesicoureteral reflux; Vomiting; Wide anterior fontanel; Wide nasal bridge; Wormian bones; Wrist flexion contracture; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
FLNB3p14.3100%gene with protein product603381FLN1L, LRS111 pairs of ribs; Abnormality of femur morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the humerus; Abnormality of the metacarpal bones; Abnormality of the radius; Abnormality of tibia morphology; Absent radius; Accessory carpal bones; Aortic aneurysm; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the ulna; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Beaking of vertebral bodies; Bipartite calcaneus; Block vertebrae; Brachydactyly; Broad distal phalanx of finger; Broad face; Broad nasal tip; Broad thumb; Bronchomalacia; C2-C3 subluxation; Capitate-hamate fusion; Carpal synostosis; Cataract; Cervical kyphosis; Cervical segmentation defect; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Club-shaped proximal femur; Clubbing; Conductive hearing impairment; Corneal opacity; Coronal cleft vertebrae; Cryptorchidism; Delayed skeletal maturation; Depressed nasal bridge; Dislocated wrist; Disproportionate short-trunk short stature; Distal tapering femur; Elbow dislocation; Encephalocele; Epiphyseal dysplasia; Fibular aplasia; Finger syndactyly; Flat acetabular roof; Flat face; Frontal bossing; Fused cervical vertebrae; Growth hormone deficiency; Hip dislocation; Hitchhiker thumb; Horizontal sacrum; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplastic cervical vertebrae; Hypoplastic iliac body; Hypoplastic nasal septum; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Knee dislocation; Large joint dislocations; Laryngeal stenosis; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Mixed hearing impairment; Multinucleated giant chondrocytes in epiphyseal cartilage; Multiple carpal ossification centers; Narrow chest; Neonatal death; Omphalocele; Pectus carinatum; Pectus excavatum; Pes planus; Polyhydramnios; Poorly ossified vertebrae; Preauricular skin tag; Premature birth; Prominent forehead; Prominent occiput; Proptosis; Radial bowing; Renal cyst; Restrictive ventilatory defect; Rhizomelia; Sandal gap; Scoliosis; Sensorineural hearing impairment; Severe short stature; Severe short-limb dwarfism; Shallow orbits; Short distal phalanx of finger; Short femur; Short humerus; Short metacarpal; Short metatarsal; Short nail; Short neck; Short nose; Short stature; Spatulate thumbs; Spina bifida occulta; Spinal cord compression; Spondylolysis; Sporadic; Stillbirth; Talipes equinovalgus; Talipes equinovarus; Tarsal synostosis; Thoracic platyspondyly; Tibial bowing; Tombstone-shaped proximal phalanges; Tracheal stenosis; Tracheomalacia; Underdeveloped nasal alae; Ventricular septal defect; Wide nasal bridge; Widened distal phalanges
FLNB3p14.3100%gene with protein product603381FLN1L, LRS111 pairs of ribs; Abnormality of femur morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the humerus; Abnormality of the metacarpal bones; Abnormality of the radius; Abnormality of tibia morphology; Absent radius; Accessory carpal bones; Aortic aneurysm; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the ulna; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Beaking of vertebral bodies; Bipartite calcaneus; Block vertebrae; Brachydactyly; Broad distal phalanx of finger; Broad face; Broad nasal tip; Broad thumb; Bronchomalacia; C2-C3 subluxation; Capitate-hamate fusion; Carpal synostosis; Cataract; Cervical kyphosis; Cervical segmentation defect; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Club-shaped proximal femur; Clubbing; Conductive hearing impairment; Corneal opacity; Coronal cleft vertebrae; Cryptorchidism; Delayed skeletal maturation; Depressed nasal bridge; Dislocated wrist; Disproportionate short-trunk short stature; Distal tapering femur; Elbow dislocation; Encephalocele; Epiphyseal dysplasia; Fibular aplasia; Finger syndactyly; Flat acetabular roof; Flat face; Frontal bossing; Fused cervical vertebrae; Growth hormone deficiency; Hip dislocation; Hitchhiker thumb; Horizontal sacrum; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplastic cervical vertebrae; Hypoplastic iliac body; Hypoplastic nasal septum; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Knee dislocation; Large joint dislocations; Laryngeal stenosis; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Mixed hearing impairment; Multinucleated giant chondrocytes in epiphyseal cartilage; Multiple carpal ossification centers; Narrow chest; Neonatal death; Omphalocele; Pectus carinatum; Pectus excavatum; Pes planus; Polyhydramnios; Poorly ossified vertebrae; Preauricular skin tag; Premature birth; Prominent forehead; Prominent occiput; Proptosis; Radial bowing; Renal cyst; Restrictive ventilatory defect; Rhizomelia; Sandal gap; Scoliosis; Sensorineural hearing impairment; Severe short stature; Severe short-limb dwarfism; Shallow orbits; Short distal phalanx of finger; Short femur; Short humerus; Short metacarpal; Short metatarsal; Short nail; Short neck; Short nose; Short stature; Spatulate thumbs; Spina bifida occulta; Spinal cord compression; Spondylolysis; Sporadic; Stillbirth; Talipes equinovalgus; Talipes equinovarus; Tarsal synostosis; Thoracic platyspondyly; Tibial bowing; Tombstone-shaped proximal phalanges; Tracheal stenosis; Tracheomalacia; Underdeveloped nasal alae; Ventricular septal defect; Wide nasal bridge; Widened distal phalanges
GLI112q13.3100%gene with protein product165220GLIAbnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Capitate-hamate fusion; Conical incisor; Cryptorchidism; Epispadias; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Hypodontia; Hypoplastic toenails; Hypospadias; Intrauterine growth retardation; Microdontia; Micromelia; Nail dysplasia; Narrow chest; Neonatal short-limb short stature; Short distal phalanx of finger; Short thorax; Situs inversus totalis; Strabismus; Ventricular septal defectHeterotaxy
GPX419p13.3100%gene with protein product13832211 pairs of ribs; Abnormality of the ribs; Abnormality of the scapula; Arrhythmia; Atrial septal defect; Atrioventricular block; Autosomal recessive inheritance; Brachydactyly; Cardiorespiratory arrest; Cerebellar hypoplasia; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped metacarpal epiphyses; Cupped ribs; Delayed epiphyseal ossification; Delayed skeletal maturation; Depressed nasal bridge; Flared iliac wings; Flat acetabular roof; Focal lissencephaly; Generalized hypotonia; Iliac crest serration; Irregular tarsal bones; Large posterior fontanelle; Long fibula; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal irregularity; Muscular hypotonia; Narrow chest; Narrow greater sacrosciatic notches; Platyspondyly; Porencephalic cyst; Posteriorly rotated ears; Redundant skin; Rhizomelia; Rhizomelic arm shortening; Short finger; Short long bone; Short metacarpal; Short neck; Short palm; Short phalanx of finger; Short ribs; Short toe; Spondylometaphyseal dysplasia; Talipes equinovarus; Turricephaly; Widened sacrosciatic notch
GPX419p13.3100%gene with protein product13832211 pairs of ribs; Abnormality of the ribs; Abnormality of the scapula; Arrhythmia; Atrial septal defect; Atrioventricular block; Autosomal recessive inheritance; Brachydactyly; Cardiorespiratory arrest; Cerebellar hypoplasia; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped metacarpal epiphyses; Cupped ribs; Delayed epiphyseal ossification; Delayed skeletal maturation; Depressed nasal bridge; Flared iliac wings; Flat acetabular roof; Focal lissencephaly; Generalized hypotonia; Iliac crest serration; Irregular tarsal bones; Large posterior fontanelle; Long fibula; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal irregularity; Muscular hypotonia; Narrow chest; Narrow greater sacrosciatic notches; Platyspondyly; Porencephalic cyst; Posteriorly rotated ears; Redundant skin; Rhizomelia; Rhizomelic arm shortening; Short finger; Short long bone; Short metacarpal; Short neck; Short palm; Short phalanx of finger; Short ribs; Short toe; Spondylometaphyseal dysplasia; Talipes equinovarus; Turricephaly; Widened sacrosciatic notch
HHAT1q32.299.89%gene with protein product605743Abnormality of pelvic girdle bone morphology; Abnormality of the shoulder; Blepharophimosis; Brain very small; Broad long bones; Chorioretinal coloboma; Deeply set eye; Hypoplasia of the iris; Increased skull ossification; Intellectual disability; Intrauterine growth retardation; Macrotia; Male pseudohermaphroditism; Microcephaly; Micromelia; Miosis; Narrow chest; Severe short stature; Short metacarpal; Short phalanx of finger; Strabismus; Telecanthus
HSPG21p36.1299.87%gene with protein product142461SJS1Abnormal eyebrow morphology; Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of femoral epiphysis; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the metaphysis; Abnormality of the pharynx; Anisospondyly; Anterior bowing of long bones; Arthrogryposis multiplex congenita; Atrial septal defect; Autosomal recessive inheritance; Blepharophimosis; Blue sclerae; Bowing of the long bones; Calvarial skull defect; Cataract; Cleft palate; Congenital hip dislocation; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal ridge; Disproportionate short-limb short stature; Elevated aldolase level; Elevated serum creatine phosphokinase; EMG abnormality; Everted lower lip vermilion; Flat face; Flexion contracture of toe; Full cheeks; Gait disturbance; Generalized hirsutism; Genu valgum; High palate; High pitched voice; Hip contracture; Hip dysplasia; Hyperlordosis; Hypertonia; Hyporeflexia; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Joint stiffness; Kyphoscoliosis; Kyphosis; Long eyelashes in irregular rows; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Malar flattening; Malignant hyperthermia; Mask-like facies; Metaphyseal widening; Metatarsus valgus; Microcornea; Micrognathia; Micromelia; Muscle weakness; Myopathy; Myopia; Myotonia; Narrow chest; Narrow mouth; Neonatal death; Osteoporosis; Overfolded helix; Overgrowth; Pectus carinatum; Pes planus; Platyspondyly; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Pulmonary hypoplasia; Pursed lips; Respiratory insufficiency; Scoliosis; Short long bone; Short neck; Short stature; Shoulder flexion contracture; Skeletal dysplasia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Spinal rigidity; Strabismus; Talipes equinovarus; Thoracic hypoplasia; Trismus; Umbilical hernia; Visual impairment; Weak voice; Wide nasal bridge; Wrist flexion contracture
IFT1223q21.3-q22.199.99%gene with protein product606045WDR10Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the abdominal wall; Abnormality of the fingernails; Abnormality of the metaphysis; Anodontia; Anteverted nares; Autosomal recessive inheritance; Bicuspid aortic valve; Brachydactyly; Broad distal phalanges of all fingers; Broad toe; Chronic kidney disease; Clinodactyly; Craniosynostosis; Dolichocephaly; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Fibular hypoplasia; Fine hair; Finger syndactyly; Flattened epiphysis; Frontal bossing; Full cheeks; Hepatic cysts; Hepatic failure; Hepatic fibrosis; Hepatomegaly; High, narrow palate; Hypocalcemia; Hypodontia; Hypoplasia of dental enamel; Hypotelorism; Joint hyperflexibility; Joint laxity; Malformation of the hepatic ductal plate; Microdontia; Myopia; Narrow chest; Nystagmus; Osteoporosis; Pectus excavatum; Prominent occiput; Protuberant abdomen; Radial deviation of finger; Renal magnesium wasting; Retinal dystrophy; Rhizomelia; Sagittal craniosynostosis; Scaphocephaly; Short distal phalanx of finger; Short humerus; Short nail; Short ribs; Short toe; Single transverse palmar crease; Slow-growing hair; Sparse hair; Telecanthus; Thin nail; Tubulointerstitial nephritis; Wide nasal bridge; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
IFT1223q21.3-q22.199.99%gene with protein product606045WDR10Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the abdominal wall; Abnormality of the fingernails; Abnormality of the metaphysis; Anodontia; Anteverted nares; Autosomal recessive inheritance; Bicuspid aortic valve; Brachydactyly; Broad distal phalanges of all fingers; Broad toe; Chronic kidney disease; Clinodactyly; Craniosynostosis; Dolichocephaly; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Fibular hypoplasia; Fine hair; Finger syndactyly; Flattened epiphysis; Frontal bossing; Full cheeks; Hepatic cysts; Hepatic failure; Hepatic fibrosis; Hepatomegaly; High, narrow palate; Hypocalcemia; Hypodontia; Hypoplasia of dental enamel; Hypotelorism; Joint hyperflexibility; Joint laxity; Malformation of the hepatic ductal plate; Microdontia; Myopia; Narrow chest; Nystagmus; Osteoporosis; Pectus excavatum; Prominent occiput; Protuberant abdomen; Radial deviation of finger; Renal magnesium wasting; Retinal dystrophy; Rhizomelia; Sagittal craniosynostosis; Scaphocephaly; Short distal phalanx of finger; Short humerus; Short nail; Short ribs; Short toe; Single transverse palmar crease; Slow-growing hair; Sparse hair; Telecanthus; Thin nail; Tubulointerstitial nephritis; Wide nasal bridge; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
IFT14016p13.3100%gene with protein product614620WDTC2Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the ribs; Abnormality of the sternum; Abnormality of the testis; Anemia; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Brachydactyly; Cataract; Cholestasis; Conductive hearing impairment; Cone-shaped epiphysis; Encephalocele; Glaucoma; Hemiplegia/hemiparesis; Hepatic fibrosis; Hepatomegaly; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the capital femoral epiphysis; Infantile onset; Intellectual disability; Keratoconus; Micromelia; Muscular hypotonia; Narrow chest; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Renal cyst; Renal dysplasia; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Short femoral neck; Short foot; Short phalanx of finger; Short stature; Short thorax; Skeletal dysplasia; Stage 5 chronic kidney disease; Visual loss; Wide nasal bridgeHeterotaxy ; Short-Rib Thoracic Dysplasia
IFT1722p23.3100%gene with protein product607386Abnormal electroretinogram; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the retinal vasculature; Abnormality of the ribs; Abnormality of the sternum; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Bell-shaped thorax; Blindness; Brachydactyly; Cataract; Cholestasis; Chronic kidney disease; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Delayed speech and language development; Elevated hepatic transaminases; Glaucoma; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hyperinsulinemia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Keratoconus; Micromelia; Multicystic kidney dysplasia; Narrow chest; Nephronophthisis; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Pancreatitis; Photophobia; Pigmentary retinopathy; Postaxial hand polydactyly; Progressive night blindness; Respiratory insufficiency; Retinal degeneration; Rod-cone dystrophy; Sensorineural hearing impairment; Short foot; Short long bone; Short ribs; Short stature; Short thorax; Skeletal dysplasia; Splenomegaly; Thoracic dysplasia; Thoracic hypoplasia; Wide nasal bridgeBardet-Biedl Syndrome ; Heterotaxy ; Obesity; Short-Rib Thoracic Dysplasia
IFT4314q24.3100%gene with protein product614068C14orf179Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Broad nail; Craniosynostosis; Cutis laxa; Dolichocephaly; Dry skin; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Fine hair; Finger syndactyly; Frontal bossing; Hypodontia; Hypoplasia of teeth; Hypotelorism; Joint hyperflexibility; Joint laxity; Microdontia; Narrow chest; Nephronophthisis; Osteoporosis; Pectus excavatum; Prominent occiput; Rhizomelia; Short distal phalanx of finger; Short nail; Short stature; Sparse hair; Syndactyly; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
IFT4314q24.3100%gene with protein product614068C14orf179Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Broad nail; Craniosynostosis; Cutis laxa; Dolichocephaly; Dry skin; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Fine hair; Finger syndactyly; Frontal bossing; Hypodontia; Hypoplasia of teeth; Hypotelorism; Joint hyperflexibility; Joint laxity; Microdontia; Narrow chest; Nephronophthisis; Osteoporosis; Pectus excavatum; Prominent occiput; Rhizomelia; Short distal phalanx of finger; Short nail; Short stature; Sparse hair; Syndactyly; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
IFT5220q13.1299.95%gene with protein product617094C20orf9Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Carious teeth; Cone-shaped epiphyses of the phalanges of the hand; Craniosynostosis; Depressed nasal bridge; Dolichocephaly; Epicanthus; Everted lower lip vermilion; Finger syndactyly; Flat acetabular roof; Frontal bossing; Full cheeks; High forehead; Hypermetropia; Hypodontia; Hypoplasia of the corpus callosum; Hypotelorism; Joint hyperflexibility; Limb undergrowth; Low-set ears; Microdontia; Midface retrusion; Motor delay; Narrow chest; Osteoporosis; Pectus excavatum; Prominent occiput; Respiratory distress; Rhizomelia; Sandal gap; Short distal phalanx of finger; Short metacarpal; Short metatarsal; Short stature; Sparse hair; Telecanthus; Wide nasal bridgeShort-Rib Thoracic Dysplasia
IFT803q25.3394.79%gene with protein product611177WDR56Abdominal distention; Abnormal pelvis bone ossification; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Absent or minimally ossified vertebral bodies; Ambiguous genitalia; Autosomal recessive inheritance; Brachydactyly; Broad palm; Cleft upper lip; Cone-shaped epiphysis; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Disproportionate short-limb short stature; Epicanthus; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypoplasia of penis; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Mesomelia; Micrognathia; Micromelia; Narrow chest; Postaxial hand polydactyly; Renal hypoplasia; Respiratory insufficiency; Rhizomelia; Short foot; Short metacarpal; Short palm; Short ribs; Short thorax; Skeletal dysplasia; Urethrovaginal fistula; Uterus didelphys; Wide noseShort-Rib Thoracic Dysplasia
IFT803q25.3394.79%gene with protein product611177WDR56Abdominal distention; Abnormal pelvis bone ossification; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Absent or minimally ossified vertebral bodies; Ambiguous genitalia; Autosomal recessive inheritance; Brachydactyly; Broad palm; Cleft upper lip; Cone-shaped epiphysis; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Disproportionate short-limb short stature; Epicanthus; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypoplasia of penis; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Mesomelia; Micrognathia; Micromelia; Narrow chest; Postaxial hand polydactyly; Renal hypoplasia; Respiratory insufficiency; Rhizomelia; Short foot; Short metacarpal; Short palm; Short ribs; Short thorax; Skeletal dysplasia; Urethrovaginal fistula; Uterus didelphys; Wide noseShort-Rib Thoracic Dysplasia
IFT803q25.3394.79%gene with protein product611177WDR56Abdominal distention; Abnormal pelvis bone ossification; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Absent or minimally ossified vertebral bodies; Ambiguous genitalia; Autosomal recessive inheritance; Brachydactyly; Broad palm; Cleft upper lip; Cone-shaped epiphysis; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Disproportionate short-limb short stature; Epicanthus; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypoplasia of penis; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Mesomelia; Micrognathia; Micromelia; Narrow chest; Postaxial hand polydactyly; Renal hypoplasia; Respiratory insufficiency; Rhizomelia; Short foot; Short metacarpal; Short palm; Short ribs; Short thorax; Skeletal dysplasia; Urethrovaginal fistula; Uterus didelphys; Wide noseShort-Rib Thoracic Dysplasia
IHH2q35100%gene with protein product600726Absent distal interphalangeal creases; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Broad metacarpal epiphyses; Broad nail; Broad palm; Clinodactyly of the 5th finger; Cone-shaped capital femoral epiphysis; Cone-shaped epiphysis; Cone-shaped epiphysis of the 1st metacarpal; Cone-shaped metacarpal epiphyses; Coxa vara; Cupped ribs; Delayed ossification of carpal bones; Delayed skeletal maturation; Disproportionate short stature; Disproportionate short-limb short stature; Distal symphalangism of hands; Dysplasia of the femoral head; Enlargement of the distal femoral epiphysis; Fibular overgrowth; Flared iliac wings; Flattened metatarsal heads; Genu varum; Heterogeneous; Hyperlordosis; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic iliac wing; Lumbar hyperlordosis; Micromelia; Narrow chest; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Proportionate shortening of all digits; Radial deviation of the 2nd finger; Radial deviation of the 3rd finger; Radial deviation of the 4th finger; Relative macrocephaly; Scoliosis; Short distal phalanx of finger; Short femoral neck; Short femur; Short foot; Short hallux; Short humerus; Short metacarpal; Short middle phalanx of finger; Short palm; Short proximal phalanx of finger; Short proximal phalanx of hallux; Short proximal phalanx of thumb; Short ribs; Short stature; Short thumb; Short tibia; Skeletal dysplasia; Slender metacarpals; Small nail; Thin proximal phalanges with broad epiphyses of the hand
INPPL111q13.4100%gene with protein product600829Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Anterior rib cupping; Anteverted nares; Autosomal recessive inheritance; Bell-shaped thorax; Brachydactyly; Cryptorchidism; Delayed skeletal maturation; Depressed nasal bridge; Disproportionate short-limb short stature; Dolichocephaly; Edema; Fibular hypoplasia; Flat acetabular roof; Flat occiput; Frontal bossing; Generalized hypotonia; Hypertelorism; Hypoplastic ilia; Hypoplastic ischia; Hypoplastic pubic bone; Hypoplastic scapulae; Hypoplastic toenails; Hypoplastic vertebral bodies; Increased fibular diameter; Large fontanelles; Lateral clavicle hook; Long philtrum; Lymphedema; Macrocephaly; Malar flattening; Metaphyseal cupping; Micromelia; Muscular hypotonia; Narrow chest; Polyhydramnios; Posterior rib cupping; Protuberant abdomen; Recurrent respiratory infections; Respiratory insufficiency; Rhizomelia; Severe platyspondyly; Severe short stature; Short foot; Short long bone; Short neck; Short nose; Short palm; Short ribs; Squared iliac bones; Tapered finger
INPPL111q13.4100%gene with protein product600829Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Anterior rib cupping; Anteverted nares; Autosomal recessive inheritance; Bell-shaped thorax; Brachydactyly; Cryptorchidism; Delayed skeletal maturation; Depressed nasal bridge; Disproportionate short-limb short stature; Dolichocephaly; Edema; Fibular hypoplasia; Flat acetabular roof; Flat occiput; Frontal bossing; Generalized hypotonia; Hypertelorism; Hypoplastic ilia; Hypoplastic ischia; Hypoplastic pubic bone; Hypoplastic scapulae; Hypoplastic toenails; Hypoplastic vertebral bodies; Increased fibular diameter; Large fontanelles; Lateral clavicle hook; Long philtrum; Lymphedema; Macrocephaly; Malar flattening; Metaphyseal cupping; Micromelia; Muscular hypotonia; Narrow chest; Polyhydramnios; Posterior rib cupping; Protuberant abdomen; Recurrent respiratory infections; Respiratory insufficiency; Rhizomelia; Severe platyspondyly; Severe short stature; Short foot; Short long bone; Short neck; Short nose; Short palm; Short ribs; Squared iliac bones; Tapered finger
ITGA317q21.33100%gene with protein product605025MSK18Autosomal recessive inheritance; Decreased glomerular filtration rate; Fine hair; Fragile skin; Gynecomastia; Hypertelorism; Hypoalbuminemia; Macrotia; Microcephaly; Narrow chest; Narrow mouth; Neonatal respiratory distress; Phenotypic variability; Prominent forehead; Proteinuria; Renal insufficiency; Respiratory acidosis; Round face; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Tubular atrophyNephrotic Syndrome
KCNJ812p12.1100%gene with protein product600935Abnormality of the metaphysis; Anteverted nares; Broad hallux phalanx; Broad ribs; Cardiomegaly; Coarse facial features; Coxa valga; Cuboid-shaped vertebral bodies; Curly eyelashes; Deep plantar creases; Delayed skeletal maturation; Epicanthus; Generalized hirsutism; Intellectual disability, mild; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Macrocephaly; Narrow chest; Osteoporosis; Ovoid vertebral bodies; Patent ductus arteriosus; Platyspondyly; Prominent supraorbital ridges; Short distal phalanx of finger; Short hallux; Short neck; Skeletal dysplasia; Thick eyebrow; Thick vermilion border; Umbilical hernia; Wide mouth; Wide nasal bridge
KIAA058614q23.195.7%gene with protein product610178Abnormality of eye movement; Abnormality of the pinna; Anencephaly; Aplastic clavicles; Apnea; Ataxia; Atrial septal defect; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Cleft palate; Congenital diaphragmatic hernia; Depressed nasal bridge; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hyporeflexia; Intellectual disability; Long face; Low-set ears; Micromelia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Nystagmus; Oculomotor apraxia; Polyhydramnios; Polymicrogyria; Postaxial polydactyly; Preaxial polydactyly; Pulmonary hypoplasia; Retinal coloboma; Short neck; Short ribs; TachypneaShort-Rib Thoracic Dysplasia
KLHL77p15.3100%gene with protein product611119Abnormal anterior chamber morphology; Abnormal electroretinogram; Abnormality of cardiovascular system morphology; Abnormality of retinal pigmentation; Abnormality of the pancreas; Abnormality of the retinal vasculature; Abnormality of the testis; Accessory oral frenulum; Anteverted nares; Atypical scarring of skin; Autosomal dominant inheritance; Biparietal narrowing; Blindness; Camptodactyly of finger; Cataract; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Conductive hearing impairment; Convex nasal ridge; Death in infancy; Elbow dislocation; Failure to thrive; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Glaucoma; Global developmental delay; Hyperinsulinemia; Hypertelorism; Hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, severe; Intestinal malrotation; Intrauterine growth retardation; Keratoconus; Limitation of joint mobility; Low anterior hairline; Low-set ears; Microcephaly; Narrow chest; Nevus flammeus of the forehead; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Pallor; Photophobia; Platyspondyly; Progressive night blindness; Prominent metopic ridge; Proptosis; Retinopathy; Retrognathia; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Short thorax; Strabismus; Supernumerary nipple; Synophrys; Thick hair; Trigonocephaly; Ulnar deviation of finger; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Wide intermamillary distance; Wide nasal bridge
LBR1q42.1299.94%gene with protein product60002411 pairs of ribs; Abnormal foot bone ossification; Abnormal joint morphology; Abnormal leukocyte morphology; Abnormal lung lobation; Abnormal ossification involving the femoral head and neck; Abnormal pelvis bone ossification; Abnormal vertebral ossification; Abnormality of cholesterol metabolism; Abnormality of chromosome segregation; Abnormality of the calcaneus; Abnormality of the gastric mucosa; Abnormality of the scapula; Abnormality of the vertebral spinous processes; Absent or minimally ossified vertebral bodies; Absent toenail; Anterior rib punctate calcifications; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Biliary cirrhosis; Bone marrow hypocellularity; Bowing of the long bones; Brachydactyly; Broad palm; Calcinosis; Calcinosis cutis; Calvarial skull defect; Cardiomegaly; Cystic hygroma; Decreased skull ossification; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dysphagia; Elevated alkaline phosphatase; Elevated hepatic transaminases; Epiphyseal stippling; Extramedullary hematopoiesis; Fatigue; Fever; Flared metaphysis; Gastroesophageal reflux; Gastrointestinal hemorrhage; Global developmental delay; Hepatic calcification; Hepatomegaly; Hepatosplenomegaly; High forehead; Horizontal sacrum; Hyperbilirubinemia; Hypertelorism; Hypoplasia of the maxilla; Hypoplastic fingernail; Hypoplastic vertebral bodies; Hyposegmentation of neutrophil nuclei; Intestinal malrotation; Irregular hyperpigmentation; Jaundice; Keratoconjunctivitis sicca; Laryngeal calcification; Lethal skeletal dysplasia; Lip telangiectasia; Long clavicles; Low-set ears; Lymphedema; Macrocephaly; Malar flattening; Mesomelia; Metaphyseal cupping; Micrognathia; Micromelia; Midface retrusion; Misalignment of teeth; Mucosal telangiectasiae; Multiple prenatal fractures; Myalgia; Narrow chest; Neonatal death; Nonimmune hydrops fetalis; Omphalocele; Palmar telangiectasia; Pancreatic islet-cell hyperplasia; Patchy variation in bone mineral density; Platyspondyly; Pleural effusion; Polydactyly; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Preeclampsia; Prominent forehead; Pruritus; Pulmonary hypoplasia; Punctate vertebral calcifications; Raynaud phenomenon; Rhizomelia; Sandal gap; Sclerodactyly; Scleroderma; Sclerosis of skull base; Severe hydrops fetalis; Severe short-limb dwarfism; Short diaphyses; Short phalanx of finger; Short ribs; Skin rash; Skin ulcer; Splenomegaly; Steatorrhea; Sternal punctate calcifications; Stillbirth; Supernumerary vertebral ossification centers; Telangiectasia of the skin; Tracheal calcification; Ulnar deviation of the hand; Xerostomia
LBR1q42.1299.94%gene with protein product60002411 pairs of ribs; Abnormal foot bone ossification; Abnormal joint morphology; Abnormal leukocyte morphology; Abnormal lung lobation; Abnormal ossification involving the femoral head and neck; Abnormal pelvis bone ossification; Abnormal vertebral ossification; Abnormality of cholesterol metabolism; Abnormality of chromosome segregation; Abnormality of the calcaneus; Abnormality of the gastric mucosa; Abnormality of the scapula; Abnormality of the vertebral spinous processes; Absent or minimally ossified vertebral bodies; Absent toenail; Anterior rib punctate calcifications; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Biliary cirrhosis; Bone marrow hypocellularity; Bowing of the long bones; Brachydactyly; Broad palm; Calcinosis; Calcinosis cutis; Calvarial skull defect; Cardiomegaly; Cystic hygroma; Decreased skull ossification; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dysphagia; Elevated alkaline phosphatase; Elevated hepatic transaminases; Epiphyseal stippling; Extramedullary hematopoiesis; Fatigue; Fever; Flared metaphysis; Gastroesophageal reflux; Gastrointestinal hemorrhage; Global developmental delay; Hepatic calcification; Hepatomegaly; Hepatosplenomegaly; High forehead; Horizontal sacrum; Hyperbilirubinemia; Hypertelorism; Hypoplasia of the maxilla; Hypoplastic fingernail; Hypoplastic vertebral bodies; Hyposegmentation of neutrophil nuclei; Intestinal malrotation; Irregular hyperpigmentation; Jaundice; Keratoconjunctivitis sicca; Laryngeal calcification; Lethal skeletal dysplasia; Lip telangiectasia; Long clavicles; Low-set ears; Lymphedema; Macrocephaly; Malar flattening; Mesomelia; Metaphyseal cupping; Micrognathia; Micromelia; Midface retrusion; Misalignment of teeth; Mucosal telangiectasiae; Multiple prenatal fractures; Myalgia; Narrow chest; Neonatal death; Nonimmune hydrops fetalis; Omphalocele; Palmar telangiectasia; Pancreatic islet-cell hyperplasia; Patchy variation in bone mineral density; Platyspondyly; Pleural effusion; Polydactyly; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Preeclampsia; Prominent forehead; Pruritus; Pulmonary hypoplasia; Punctate vertebral calcifications; Raynaud phenomenon; Rhizomelia; Sandal gap; Sclerodactyly; Scleroderma; Sclerosis of skull base; Severe hydrops fetalis; Severe short-limb dwarfism; Short diaphyses; Short phalanx of finger; Short ribs; Skin rash; Skin ulcer; Splenomegaly; Steatorrhea; Sternal punctate calcifications; Stillbirth; Supernumerary vertebral ossification centers; Telangiectasia of the skin; Tracheal calcification; Ulnar deviation of the hand; Xerostomia
NAA10Xq2899.97%gene with protein product300013ARD1, ARD1AAbnormal palmar dermatoglyphics; Abnormality of dental morphology; Abnormality of the dentition; Abnormality of the nares; Abnormality of the pinna; Aganglionic megacolon; Agenesis of maxillary lateral incisor; Aggressive behavior; Anal atresia; Anophthalmia; Atrial septal defect; Bicuspid aortic valve; Blindness; Broad hallux; Camptodactyly; Camptodactyly of finger; Cerebral atrophy; Chorioretinal coloboma; Ciliary body coloboma; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Coarse facial features; Complete duplication of thumb phalanx; Congenital onset; Cryptorchidism; Deep philtrum; Delayed cranial suture closure; Dental crowding; Depressed nasal bridge; Down-sloping shoulders; Downslanted palpebral fissures; Epicanthus; Everted upper lip vermilion; External ear malformation; Facial wrinkling; Finger syndactyly; Generalized hypotonia; Glaucoma; Global developmental delay; Growth delay; Hearing impairment; High palate; High, narrow palate; Hydronephrosis; Hydroureter; Hypertonia; Hypospadias; Inguinal hernia; Intellectual disability; Iris coloboma; Joint contracture of the hand; Kyphoscoliosis; Long eyelashes; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrotia; Microcephaly; Microcornea; Microphthalmia; Microretrognathia; Minimal subcutaneous fat; Motor delay; Narrow chest; Optic nerve coloboma; Oral cleft; Overfolded helix; Pectus excavatum; Postnatal growth retardation; Prominent forehead; Proptosis; Ptosis; Pulmonary artery stenosis; Pyloric stenosis; Radial deviation of finger; Rectal prolapse; Recurrent infections; Recurrent otitis media; Redundant skin; Renal hypoplasia; Renal hypoplasia/aplasia; Seizures; Self-mutilation; Short clavicles; Short columella; Short stature; Sparse and thin eyebrow; Spastic diplegia; Stereotypy; Supraventricular tachycardia; Syndactyly; Thick upper lip vermilion; Thin upper lip vermilion; Torsade de pointes; Underdeveloped nasal alae; Variable expressivity; Ventricular extrasystoles; Ventricular septal defect; Ventricular tachycardia; Webbed neck; Wide nasal bridge; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
NEK14q3399.77%gene with protein product604588Ambiguous genitalia; Amyotrophic lateral sclerosis; Anxiety; Autosomal recessive inheritance; Cleft palate; Depressivity; Digenic inheritance; Disproportionate shortening of the tibia; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Hamartoma of tongue; Horizontal ribs; Hydrops fetalis; Hypoplasia of the epiglottis; Lateral clavicle hook; Median cleft lip; Muscle cramps; Narrow chest; Neurodegeneration; Pain; Paralysis; Polycystic kidney dysplasia; Polysyndactyly of hallux; Postaxial hand polydactyly; Postaxial polysyndactyly of foot; Preaxial hand polydactyly; Pulmonary hypoplasia; Respiratory failure; Short ribs; Skeletal muscle atrophy; Spasticity; Thoracic dysplasia; XerostomiaDisorders of Sex Development; Short-Rib Thoracic Dysplasia
ORC616q11.2100%gene with protein product607213ORC6LAbnormality of epiphysis morphology; Abnormality of the ribs; Absent sternal ossification; Anotia; Aplasia/Hypoplasia of the patella; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Breast hypoplasia; Bronchomalacia; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Coxa vara; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Downslanted palpebral fissures; Dyspnea; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; Genu varum; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Hypospadias; Intrauterine growth retardation; Joint hyperflexibility; Laryngomalacia; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microretrognathia; Microtia; Microtia, third degree; Narrow chest; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Prominent nasal bridge; Recurrent pneumonia; Respiratory distress; Respiratory failure; Retrognathia; Scrotal hypoplasia; Severe short stature; Short ribs; Short thorax; Slender long bone; Talipes equinovarus; Thick lower lip vermilion; Tracheomalacia; Triangular face
PAM1616p13.399.99%gene with protein product614336Anteverted nares; Autosomal recessive inheritance; Bell-shaped thorax; Cardiomegaly; Deep philtrum; Delayed skeletal maturation; Depressed nasal bridge; Frontal bossing; Global developmental delay; Hypoplastic ischia; Iliac crest serration; Large fontanelles; Low-set ears; Metaphyseal cupping; Micromelia; Microtia; Muscular hypotonia of the trunk; Narrow chest; Prominent forehead; Pulmonary arterial hypertension; Round face; Severe platyspondyly; Short long bone; Short neck; Short nose; Short ribs; Short stature; Small for gestational age; Spondylometaphyseal dysplasia; Squared iliac bones; Tachypnea; Wide nose; Wormian bones
POR7q11.23100%gene with protein product124015Abnormal renal morphology; Abnormal sex determination; Abnormalities of placenta or umbilical cord; Abnormality of abdomen morphology; Abnormality of metabolism/homeostasis; Abnormality of the endocrine system; Abnormality of the labia majora; Abnormality of the menstrual cycle; Abnormality of the pinna; Absence of secondary sex characteristics; Accelerated skeletal maturation; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Androgen insufficiency; Arachnodactyly; Arnold-Chiari malformation; Atrial septal defect; Autosomal recessive inheritance; Bifid scrotum; Brachycephaly; Bronchomalacia; Camptodactyly; Carpal synostosis; Choanal atresia; Choanal stenosis; Chordee; Clinodactyly; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital adrenal hyperplasia; Coronal craniosynostosis; Craniosynostosis; Cryptorchidism; Decreased circulating cortisol level; Decreased fertility in females; Decreased fertility in males; Decreased serum estradiol; Decreased serum testosterone level; Decreased testicular size; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Ectopic adrenal gland; Enlarged polycystic ovaries; Female external genitalia in individual with 46,XY karyotype; Female sexual dysfunction; Femoral bowing; Flexion contracture; Frontal bossing; Fused labia minora; Generalized hyperpigmentation; Hemivertebrae; Horseshoe kidney; Humeroradial synostosis; Hydrocephalus; Hyperpigmented genitalia; Hypertelorism; Hypoplasia of the vagina; Hypoplastic labia majora; Hypospadias; Increased circulating ACTH level; Increased serum testosterone level; Intellectual disability; Joint contracture of the hand; Labial hypoplasia; Lambdoidal craniosynostosis; Laryngomalacia; Long philtrum; Low maternal serum estriol; Low-set ears; Malar flattening; Male pseudohermaphroditism; Maternal virilization in pregnancy; Microcephaly; Micropenis; Midface retrusion; Narrow chest; Narrow pelvis bone; Oligohydramnios; Osteoporosis; Pear-shaped nose; Perineal hypospadias; Polycystic ovaries; Premature adrenarche; Proptosis; Radioulnar synostosis; Rocker bottom foot; Scoliosis; Scrotal hypoplasia; Short stature; Small for gestational age; Stenosis of the external auditory canal; Tall stature; Tarsal synostosis; Ulnar bowing; Upper airway obstruction; Urogenital sinus anomaly; Vaginal atresia; Vesicovaginal fistula; Wide anterior fontanelDisorders of Sex Development; Ectodermal Dysplasia
PTH1R3p21.3199.98%gene with protein product168468PTHR, PTHR1Abnormal trabecular bone morphology; Abnormality of epiphysis morphology; Abnormality of the acetabulum; Abnormality of the fingertips; Abnormality of the metaphysis; Absence of the sacrum; Accelerated skeletal maturation; Advanced ossification of carpal bones; Advanced tarsal ossification; Anteverted nares; Aplastic clavicles; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Brachycephaly; Broad clavicles; Broad foot; Broad palm; Cataract; Choanal atresia; Choanal stenosis; Clinodactyly of the 5th finger; Clubbing of fingers; Cubitus valgus; Delayed epiphyseal ossification; Depressed nasal bridge; Distal shortening of limbs; Elevated alkaline phosphatase; Epiphyseal dysplasia; Failure of eruption of permanent teeth; Fibular hypoplasia; Flared metaphysis; Generalized osteosclerosis; Hearing impairment; High iliac wings; Hip contracture; Hydrops fetalis; Hypercalcemia; Hypercalciuria; Hyperphosphaturia; Hypertelorism; Hypodontia; Hypoparathyroidism; Hypophosphatemia; Increased bone mineral density; Joint stiffness; Knee flexion contracture; Laryngeal calcification; Lethal skeletal dysplasia; Limited elbow flexion; Limited hip movement; Long philtrum; Low-set ears; Malar flattening; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal irregularity; Micrognathia; Micromelia; Misalignment of teeth; Multiple enchondromatosis; Narrow chest; Narrow pelvis bone; Natal tooth; Neonatal short-limb short stature; Nephrocalcinosis; Osteolysis; Osteopenia; Pathologic fracture; Persistence of primary teeth; Platyspondyly; Polyhydramnios; Premature birth; Prominent supraorbital arches in adult; Proptosis; Protruding tongue; Protuberant abdomen; Pulmonary hypoplasia; Rhizomelia; Severe short stature; Short foot; Short long bone; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short toe; Skeletal dysplasia; Squared iliac bones; Stillbirth; Subcutaneous nodule; Synostosis of joints; Telecanthus; Thick skull base; Thin bony cortex; Visceral angiomatosis; Waddling gaitEctodermal Dysplasia
RMRP9p13.3RNA, miscXomeDxSlice is not appropriate. This gene is available on our menu: https://www.genedx.com/test-catalog/available-tests/rmrp-gene-sequencing-1/157660CHHAbnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of the hair; Abnormality of the hip bone; Abnormality of the immune system; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the vertebral column; Aganglionic megacolon; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Biconvex vertebral bodies; Blue sclerae; Brachydactyly; Cardiomyopathy; Cellular immunodeficiency; Cervical cord compression; Cervical subluxation; Chronic diarrhea; Cone-shaped epiphyses of the phalanges of the hand; Congenital hypoplastic anemia; Convex nasal ridge; Delayed ossification of carpal bones; Depressed nasal bridge; Desquamation of skin soon after birth; Diaphyseal thickening; Dry skin; Edema; EEG abnormality; Eosinophilia; Erythroderma; Esophageal atresia; Failure to thrive; Fair hair; Femoral bowing; Fever; Fine hair; Flared metaphysis; Flaring of lower rib cage; Genu varum; Gingival overgrowth; Hepatomegaly; High hypermetropia; Hyperlordosis; Hypertelorism; Hypocalcemia; Hypodontia; Hypoplastic ilia; Impaired lymphocyte transformation with phytohemagglutinin; Intellectual disability; J-shaped sella turcica; Joint hypermobility; Joint laxity; Large face; Limited elbow extension; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Lymphadenopathy; Lymphopenia; Macrocytic anemia; Malabsorption; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal cupping of metacarpals; Metaphyseal dysplasia; Metaphyseal irregularity; Metaphyseal widening; Micromelia; Mucopolysacchariduria; Muscular hypotonia; Myopia; Narrow chest; Narrow vertebral interpedicular distance; Neonatal short-limb short stature; Neoplasm of the skin; Neutropenia; Platyspondyly; Pneumonia; Prominent forehead; Pruritus; Reduced tendon reflexes; Respiratory insufficiency; Rhizomelia; Scoliosis; Severe combined immunodeficiency; Severe short stature; Short finger; Short long bone; Short metacarpal; Short neck; Short palm; Short toe; Small epiphyses; Sparse and thin eyebrow; Sparse eyelashes; Sparse facial hair; Sparse hair; Spinal dysraphism; Splenomegaly; Strabismus; Susceptibility to chickenpox; Thickened skin; Tibial bowing; Tracheal stenosis; Visual impairment
RPS1919q13.2100%gene with protein product60347411 pairs of ribs; Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Absent thumb; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Bifid thoracic vertebrae; Cleft palate; Cleft upper lip; Coarctation of aorta; Colon cancer; Congenital hypoplastic anemia; Congestive heart failure; Delayed cranial suture closure; Delayed puberty; Depressed nasal ridge; Downslanted palpebral fissures; Elevated red cell adenosine deaminase activity; Failure to thrive; Fatigue; High palate; Hypertelorism; Hypoplasia of the radius; Hypoplastic coccygeal vertebrae; Hypoplastic ilia; Hypoplastic sacral vertebrae; Infantile onset; Intrauterine growth retardation; Macrocytic anemia; Microcephaly; Micrognathia; Migraine; Myelodysplasia; Narrow chest; Neutropenia; Osteosarcoma; Pallor; Parietal foramina; Partial duplication of thumb phalanx; Premature birth; Reticulocytopenia; Retrognathia; Short neck; Short stature; Short thumb; Strabismus; Thrombocytopenia; Thrombocytosis; Triphalangeal thumb; Ventricular septal defect; Webbed neckAplastic Anemia ; Bone Marrow Failure Syndromes
RUNX26p21.1100%gene with protein product600211CCD, CBFA1, CCD1Abnormal facility in opposing the shoulders; Abnormality of dental enamel; Abnormality of the metacarpal bones; Abnormality of the ribs; Abnormality of the sacrum; Absent frontal sinuses; Absent paranasal sinuses; Aplastic clavicles; Autosomal dominant inheritance; Brachydactyly; Carious teeth; Cervical ribs; Chronic otitis media; Cleft palate; Cone-shaped epiphyses of the phalanges of the hand; Convex nasal ridge; Coxa vara; Decreased skull ossification; Delayed eruption of permanent teeth; Delayed eruption of primary teeth; Delayed eruption of teeth; Delayed pubic bone ossification; Depressed nasal bridge; Dimple chin; Down-sloping shoulders; Flared metaphysis; Frontal bossing; Hearing impairment; High palate; High, narrow palate; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplasia of the zygomatic bone; Hypoplastic frontal sinuses; Hypoplastic iliac wing; Hypoplastic inferior ilia; Hypoplastic scapulae; Increased bone mineral density; Increased number of teeth; Increased susceptibility to fractures; Kyphosis; Large fontanelles; Large foramen magnum; Long second metacarpal; Malar flattening; Mandibular prognathia; Metaphyseal dysplasia; Micrognathia; Midface retrusion; Moderately short stature; Multiple small vertebral fractures; Narrow chest; Narrow palate; Neonatal respiratory distress; Open bite; Osteoporosis; Osteoporosis of vertebrae; Parietal bossing; Persistent open anterior fontanelle; Platyspondyly; Premature loss of teeth; Recurrent respiratory infections; Scoliosis; Short 5th metacarpal; Short clavicles; Short face; Short femoral neck; Short middle phalanx of the 2nd finger; Short middle phalanx of the 5th finger; Short philtrum; Short ribs; Short stature; Sinusitis; Skeletal dysplasia; Sloping forehead; Spina bifida occulta; Spondylolisthesis; Spondylolysis; Syringomyelia; Thickened calvaria; Thin vermilion border; Wide pubic symphysis; Wormian bones
RUNX26p21.1100%gene with protein product600211CCD, CBFA1, CCD1Abnormal facility in opposing the shoulders; Abnormality of dental enamel; Abnormality of the metacarpal bones; Abnormality of the ribs; Abnormality of the sacrum; Absent frontal sinuses; Absent paranasal sinuses; Aplastic clavicles; Autosomal dominant inheritance; Brachydactyly; Carious teeth; Cervical ribs; Chronic otitis media; Cleft palate; Cone-shaped epiphyses of the phalanges of the hand; Convex nasal ridge; Coxa vara; Decreased skull ossification; Delayed eruption of permanent teeth; Delayed eruption of primary teeth; Delayed eruption of teeth; Delayed pubic bone ossification; Depressed nasal bridge; Dimple chin; Down-sloping shoulders; Flared metaphysis; Frontal bossing; Hearing impairment; High palate; High, narrow palate; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplasia of the zygomatic bone; Hypoplastic frontal sinuses; Hypoplastic iliac wing; Hypoplastic inferior ilia; Hypoplastic scapulae; Increased bone mineral density; Increased number of teeth; Increased susceptibility to fractures; Kyphosis; Large fontanelles; Large foramen magnum; Long second metacarpal; Malar flattening; Mandibular prognathia; Metaphyseal dysplasia; Micrognathia; Midface retrusion; Moderately short stature; Multiple small vertebral fractures; Narrow chest; Narrow palate; Neonatal respiratory distress; Open bite; Osteoporosis; Osteoporosis of vertebrae; Parietal bossing; Persistent open anterior fontanelle; Platyspondyly; Premature loss of teeth; Recurrent respiratory infections; Scoliosis; Short 5th metacarpal; Short clavicles; Short face; Short femoral neck; Short middle phalanx of the 2nd finger; Short middle phalanx of the 5th finger; Short philtrum; Short ribs; Short stature; Sinusitis; Skeletal dysplasia; Sloping forehead; Spina bifida occulta; Spondylolisthesis; Spondylolysis; Syringomyelia; Thickened calvaria; Thin vermilion border; Wide pubic symphysis; Wormian bones
SBDS7q11.21100%gene with protein product607444Abnormality of the metaphysis; Acute myeloid leukemia; Anemia; Autosomal recessive inheritance; Coxa vara; Delayed skeletal maturation; Eczema; Elevated hepatic transaminases; Enlargement of the costochondral junction; Exocrine pancreatic insufficiency; Failure to thrive; Generalized hypotonia; Global developmental delay; Hepatomegaly; Ichthyosis; Intellectual disability; Intellectual disability, mild; Irregular ossification at anterior rib ends; Malabsorption; Metaphyseal chondrodysplasia; Metaphyseal sclerosis; Metaphyseal widening; Myelodysplasia; Myocardial necrosis; Narrow chest; Narrow sacroiliac notch; Neonatal respiratory distress; Nephrocalcinosis; Neutropenia; Osteopenia; Ovoid vertebral bodies; Pancytopenia; Persistence of hemoglobin F; Proximal femoral epiphysiolysis; Recurrent infections; Short stature; Small for gestational age; Specific learning disability; Steatorrhea; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
SEC23A14q21.1100%gene with protein product610511Anteverted nares; Autosomal recessive inheritance; Brittle hair; Capillary hemangiomas; Carious teeth; Coarse hair; Cryptorchidism; Decreased skull ossification; Delayed closure of the anterior fontanelle; Delayed eruption of teeth; Forehead hyperpigmentation; Frontal bossing; High iliac wings; Hyperpigmentation of the skin; Hypertelorism; Hypoplasia of teeth; Hypoplasia of the maxilla; Joint laxity; Large fontanelles; Long philtrum; Macrocephaly; Malar flattening; Microdontia; Midface retrusion; Narrow chest; Narrow iliac wings; Pes planus; Posterior wedging of vertebral bodies; Posterior Y-sutural cataract; Premature loss of teeth; Prominent nasal bridge; Prominent supraorbital ridges; Punctate cataract; Scoliosis; Short stature; Skeletal dysplasia; Smooth philtrum; Sparse hair; Sutural cataract; Thin upper lip vermilion; Thin vermilion border; Wide anterior fontanel; Wide mouth; Wide nasal bridge; Wide nose
SERPINH111q13.5100%gene with protein product600943CBP1, CBP2, SERPINH2Autosomal recessive inheritance; Blue sclerae; Broad ribs; Chronic lung disease; Dentinogenesis imperfecta; Generalized hypotonia; Generalized joint laxity; Genu valgum; High forehead; High pitched voice; Inguinal hernia; Joint laxity; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Narrow chest; Narrow forehead; Nephrolithiasis; Osteopenia; Platyspondyly; Prominent forehead; Pyloric stenosis; Relative macrocephaly; Scoliosis; Shallow orbits; Short stature; Thin ribs; Triangular face; Vertebral compression fractures
SLC26A25q32100%gene with protein product606718DTDAbdominal distention; Abnormal enchondral ossification; Abnormal form of the vertebral bodies; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the clavicle; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the patella; Abnormality of the ribs; Absent or minimally ossified vertebral bodies; Anteverted nares; Aplasia/Hypoplasia of the lungs; Arthralgia; Autosomal recessive inheritance; Blue sclerae; Bowing of the long bones; Brachydactyly; Breech presentation; Camptodactyly of finger; Cervical kyphosis; Cleft palate; Clinodactyly of the 5th finger; Coronal cleft vertebrae; Costal cartilage calcification; Cystic lesions of the pinnae; Depressed nasal bridge; Disproportionate short stature; Disproportionate short-limb short stature; Dumbbell-shaped femur; Edema; Epiphyseal dysplasia; Femoral hernia; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Frontal bossing; Full cheeks; Glabellar hemangioma; Hearing impairment; Hip contracture; Hip dysplasia; Hitchhiker thumb; Hoarse voice; Horizontal sacrum; Hydrops fetalis; Hypertelorism; Hypertrophic auricular cartilage; Hypoplasia of the femoral head; Hypoplastic cervical vertebrae; Hypoplastic ilia; Increased bone mineral density; Inguinal hernia; Intrauterine growth retardation; Irregular epiphyses; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Laryngotracheal stenosis; Lethal skeletal dysplasia; Limited elbow flexion; Long philtrum; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Multiple epiphyseal dysplasia; Muscular hypotonia; Narrow chest; Neonatal short-limb short stature; Osteoarthritis; Overfolded helix; Platyspondyly; Polyhydramnios; Proximal placement of thumb; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Sandal gap; Scoliosis; Severe short stature; Short finger; Short foot; Short long bone; Short metacarpal; Short middle phalanx of finger; Short neck; Short nose; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Small hand; Spinal cord compression; Stillbirth; Symphalangism affecting the phalanges of the hand; Talipes equinovarus; Thickened nuchal skin fold; Thoracic hypoplasia; Ulnar deviation of finger; Umbilical herniaShort-Rib Thoracic Dysplasia
SLC26A25q32100%gene with protein product606718DTDAbdominal distention; Abnormal enchondral ossification; Abnormal form of the vertebral bodies; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the clavicle; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the patella; Abnormality of the ribs; Absent or minimally ossified vertebral bodies; Anteverted nares; Aplasia/Hypoplasia of the lungs; Arthralgia; Autosomal recessive inheritance; Blue sclerae; Bowing of the long bones; Brachydactyly; Breech presentation; Camptodactyly of finger; Cervical kyphosis; Cleft palate; Clinodactyly of the 5th finger; Coronal cleft vertebrae; Costal cartilage calcification; Cystic lesions of the pinnae; Depressed nasal bridge; Disproportionate short stature; Disproportionate short-limb short stature; Dumbbell-shaped femur; Edema; Epiphyseal dysplasia; Femoral hernia; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Frontal bossing; Full cheeks; Glabellar hemangioma; Hearing impairment; Hip contracture; Hip dysplasia; Hitchhiker thumb; Hoarse voice; Horizontal sacrum; Hydrops fetalis; Hypertelorism; Hypertrophic auricular cartilage; Hypoplasia of the femoral head; Hypoplastic cervical vertebrae; Hypoplastic ilia; Increased bone mineral density; Inguinal hernia; Intrauterine growth retardation; Irregular epiphyses; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Laryngotracheal stenosis; Lethal skeletal dysplasia; Limited elbow flexion; Long philtrum; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Multiple epiphyseal dysplasia; Muscular hypotonia; Narrow chest; Neonatal short-limb short stature; Osteoarthritis; Overfolded helix; Platyspondyly; Polyhydramnios; Proximal placement of thumb; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Sandal gap; Scoliosis; Severe short stature; Short finger; Short foot; Short long bone; Short metacarpal; Short middle phalanx of finger; Short neck; Short nose; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Small hand; Spinal cord compression; Stillbirth; Symphalangism affecting the phalanges of the hand; Talipes equinovarus; Thickened nuchal skin fold; Thoracic hypoplasia; Ulnar deviation of finger; Umbilical herniaShort-Rib Thoracic Dysplasia
SLC35D11p31.397.11%gene with protein product610804Abnormality of the fingernails; Advanced ossification of carpal bones; Advanced tarsal ossification; Anterior rib cupping; Autosomal recessive inheritance; Brachydactyly; Cleft palate; Cryptorchidism; Disproportionate short-limb short stature; Dolichocephaly; Dumbbell-shaped long bone; Fibular hypoplasia; Flat acetabular roof; Hypoplastic ilia; Hypoplastic scapulae; Hypoplastic toenails; Hypoplastic vertebral bodies; Increased fibular diameter; Lateral clavicle hook; Lymphedema; Macrocephaly; Malar flattening; Metaphyseal irregularity; Micromelia; Midface retrusion; Narrow chest; Ovoid vertebral bodies; Polyhydramnios; Short neck; Short ribs; Snail-like ilia; Stillbirth
SLC35D11p31.397.11%gene with protein product610804Abnormality of the fingernails; Advanced ossification of carpal bones; Advanced tarsal ossification; Anterior rib cupping; Autosomal recessive inheritance; Brachydactyly; Cleft palate; Cryptorchidism; Disproportionate short-limb short stature; Dolichocephaly; Dumbbell-shaped long bone; Fibular hypoplasia; Flat acetabular roof; Hypoplastic ilia; Hypoplastic scapulae; Hypoplastic toenails; Hypoplastic vertebral bodies; Increased fibular diameter; Lateral clavicle hook; Lymphedema; Macrocephaly; Malar flattening; Metaphyseal irregularity; Micromelia; Midface retrusion; Narrow chest; Ovoid vertebral bodies; Polyhydramnios; Short neck; Short ribs; Snail-like ilia; Stillbirth
SLC9A6Xq26.399.51%gene with protein product300231Abnormality of the foot; Absent speech; Adducted thumb; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the corpus callosum; Autism; Bowel incontinence; Cachexia; Cerebellar atrophy; Cerebral cortical atrophy; Conspicuously happy disposition; Decreased body weight; Developmental regression; Drooling; Dysphagia; Dystonia; Feeding difficulties in infancy; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Generalized seizures; Global developmental delay; Happy demeanor; Hyperkinesis; Inappropriate laughter; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Long face; Long nose; Loss of ability to walk in first decade; Macrotia; Mandibular prognathia; Microcephaly; Mutism; Narrow chest; Narrow face; Neuronal loss in central nervous system; Nystagmus; Open mouth; Ophthalmoplegia; Pectus excavatum; Photosensitive tonic-clonic seizures; Severe global developmental delay; Skeletal muscle atrophy; Sleep disturbance; Slender finger; Stereotypy; Strabismus; Thick eyebrow; Truncal ataxia; Urinary incontinence; Ventriculomegaly; X-linked dominant inheritance
SNX107p15.299.98%gene with protein product614780Abnormal blistering of the skin; Abnormality of epiphysis morphology; Abnormality of hair texture; Abnormality of temperature regulation; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of visual evoked potentials; Anemia; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Chronic rhinitis; Craniosynostosis; Delayed eruption of teeth; Facial palsy; Failure to thrive; Feeding difficulties; Frontal bossing; Growth delay; Hearing impairment; Hepatomegaly; Hydrocephalus; Lymphadenopathy; Macrocephaly; Narrow chest; Nystagmus; Opsoclonus; Optic atrophy; Optic nerve compression; Osteopetrosis; Otitis media; Pallor; Premature loss of primary teeth; Recurrent fractures; Recurrent respiratory infections; Reduced bone mineral density; Splenomegaly; Thrombocytopenia; Tremor; Visual impairment
SOX917q24.3100%gene with protein product608160CMD1, CMPD111 pairs of ribs; Abnormal heart morphology; Abnormal scrotal rugation; Abnormal sex determination; Abnormality of male internal genitalia; Abnormality of the labia; Abnormality of the pharynx; Abnormality of the scrotum; Abnormality of the uterus; Absent sternal ossification; Ambiguous genitalia; Anterior tibial bowing; Apnea; Autosomal dominant inheritance; Azoospermia; Bifid scrotum; Blepharophimosis; Cleft palate; Clitoral hypertrophy; Cryptorchidism; Decreased fertility; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Depressed nasal bridge; Depressed nasal ridge; Disproportionate short-limb short stature; Dysgerminoma; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Failure to thrive; Female external genitalia in individual with 46,XY karyotype; Femoral bowing; Fibular hypoplasia; Flat face; Generalized hypotonia; Glossoptosis; Gonadal dysgenesis; Gonadoblastoma; Gynecomastia; Hearing impairment; High forehead; Hip dislocation; Hydrocephalus; Hydronephrosis; Hypergonadotropic hypogonadism; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the vagina; Hypoplastic cervical vertebrae; Hypoplastic iliac wing; Hypoplastic inferior ilia; Hypoplastic scapulae; Hypospadias; Kyphoscoliosis; Laryngomalacia; Low-set ears; Macrocephaly; Male hypogonadism; Male infertility; Male pseudohermaphroditism; Micrognathia; Micropenis; Narrow chest; Neonatal respiratory distress; Neonatal short-limb short stature; Osteoporosis; Polycystic ovaries; Polyhydramnios; Poorly ossified cervical vertebrae; Primary amenorrhea; Proptosis; Recurrent fractures; Respiratory distress; Respiratory insufficiency; Scoliosis; Scrotal hypoplasia; Sex reversal; Short neck; Short palpebral fissure; Short stature; Shortening of all phalanges of fingers; Shortening of all phalanges of the toes; Skin dimples; Small abnormally formed scapulae; Small face; Sparse axillary hair; Sparse pubic hair; Streak ovary; Talipes equinovarus; Testicular dysgenesis; Thin ribs; Thoracic hypoplasia; Tibial bowing; Tracheobronchomalacia; True hermaphroditism; Upper airway obstruction; Urogenital sinus anomaly; Vanishing testis; Wide anterior fontanelDisorders of Sex Development; Short-Rib Thoracic Dysplasia
TCIRG111q13.2100%gene with protein product604592Abnormal blistering of the skin; Abnormality of epiphysis morphology; Abnormality of hair texture; Abnormality of temperature regulation; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of visual evoked potentials; Anemia; Autosomal recessive inheritance; Blindness; Bone pain; Bowing of the long bones; Carious teeth; Chronic rhinitis; Coxa vara; Craniosynostosis; Delayed eruption of teeth; Elevated alkaline phosphatase; Facial palsy; Facial paralysis; Failure to thrive; Flared metaphysis; Frontal bossing; Growth delay; Hearing impairment; Hepatomegaly; Heterogeneous; Hydrocephalus; Lymphadenopathy; Macrocephaly; Narrow chest; Nystagmus; Ophthalmoparesis; Opsoclonus; Optic atrophy; Optic nerve compression; Osteomyelitis; Osteopetrosis; Otitis media; Pallor; Pancytopenia; Pathologic fracture; Premature loss of primary teeth; Recurrent fractures; Recurrent respiratory infections; Reduced bone mineral density; Sandwich appearance of vertebral bodies; Seizures; Splenomegaly; Tetany; Tremor; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes
TMCO11q24.1100%gene with protein product614123TMCC4Bifid ribs; Brachycephaly; Broad philtrum; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Coarse hair; Downslanted palpebral fissures; Epicanthus; Hemivertebrae; Hernia; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability; Low posterior hairline; Low-set, posteriorly rotated ears; Macrocephaly; Midface retrusion; Narrow chest; Polyhydramnios; Rib fusion; Scoliosis; Short neck; Short nose; Short stature; Sprengel anomaly; Strabismus; Synophrys; Thick eyebrow; Ventriculomegaly; Wide mouth; Wide nose
TNFSF1113q14100%gene with protein product602642Abnormal blistering of the skin; Abnormality of epiphysis morphology; Abnormality of hair texture; Abnormality of temperature regulation; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of visual evoked potentials; Anemia; Autosomal recessive inheritance; Blindness; Bone pain; Bowing of the long bones; Carious teeth; Chronic rhinitis; Chronic rhinitis due to narrow nasal airway; Cranial hyperostosis; Craniosynostosis; Delayed eruption of teeth; Diaphyseal sclerosis; Extramedullary hematopoiesis; Facial paralysis; Genu valgum; Growth delay; Hearing impairment; Hepatomegaly; Hepatosplenomegaly; Hydrocephalus; Lymphadenopathy; Macrocephaly; Mandibular osteomyelitis; Mandibular prognathia; Narrow chest; Nystagmus; Opsoclonus; Optic atrophy; Optic nerve compression; Osteopetrosis; Otitis media; Pallor; Pancytopenia; Persistence of primary teeth; Premature loss of primary teeth; Recurrent fractures; Recurrent respiratory infections; Reduced bone mineral density; Splenomegaly; Thrombocytopenia; Tremor; Visual impairment
TRIP1114q32.12100%gene with protein product604505Abdominal distention; Abnormal enchondral ossification; Abnormal foot bone ossification; Abnormal hand bone ossification; Abnormality of the femoral metaphysis; Anteverted nares; Aplasia/Hypoplasia of the lungs; Autosomal recessive inheritance; Barrel-shaped chest; Beaded ribs; Broad clavicles; Decreased skull ossification; Depressed nasal bridge; Disproportionate short-trunk short stature; Femoral hernia; Flat face; Frontal bossing; Hydrops fetalis; Hypoplasia of the radius; Hypoplastic ischia; Hypoplastic scapulae; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Micrognathia; Micromelia; Multiple rib fractures; Narrow chest; Polyhydramnios; Protuberant abdomen; Recurrent fractures; Severe short stature; Short clavicles; Short foot; Short neck; Short nose; Short palm; Short ribs; Short thorax; Stillbirth; Thickened nuchal skin fold; Umbilical hernia; Unossified vertebral bodies
TRPV412q24.11100%gene with protein product605427Abducens palsy; Abnormal cortical bone morphology; Abnormal enchondral ossification; Abnormal form of the vertebral bodies; Abnormal metaphyseal vascular invasion; Abnormality of the eye; Abnormality of the face; Abnormality of the foot; Abnormality of the intervertebral disk; Abnormality of the metaphysis; Abnormality of the rib cage; Abnormality of the ribs; Absent primary metaphyseal spongiosa; Amyoplasia; Anisospondyly; Areflexia; Arthrogryposis multiplex congenita; Arthropathy; Autosomal dominant inheritance; Barrel-shaped chest; Brachydactyly; Brachytelomesophalangy; Broad-based gait; Cachexia; Carpal bone hypoplasia; Caudal appendage; Childhood-onset short-trunk short stature; Clinodactyly; Coxa vara; Decreased distal sensory nerve action potential; Decreased fetal movement; Delayed skeletal maturation; Depressed nasal bridge; Diaphragmatic weakness; Disproportionate short-trunk short stature; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Dumbbell-shaped metaphyses; Elbow flexion contracture; Elevated serum creatine phosphokinase; Enlarged joints; Epiphyseal dysplasia; Facial palsy; Flared femoral metaphysis; Flared humeral metaphysis; Flared metaphysis; Flat acetabular roof; Flexion contracture; Foot dorsiflexor weakness; Gait disturbance; Genu valgum; Gowers sign; Halberd-shaped pelvis; Hammertoe; Hand muscle atrophy; High forehead; Hip contracture; Hip dysplasia; Hyperlordosis; Hypermetropia; Hyperplasia of the femoral trochanters; Hypoplasia of the odontoid process; Hypoplastic cervical vertebrae; Hyporeflexia; Incomplete penetrance; Increased vertebral height; Intercostal muscle weakness; Irregular acetabular roof; Irregular, rachitic-like metaphyses; Joint stiffness; Juvenile onset; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long coccyx; Long thorax; Metatarsus adductus; Micromelia; Motor delay; Motor polyneuropathy; Muscle fiber splitting; Muscular hypotonia; Narrow chest; Nonprogressive; Nonprogressive muscular atrophy; Obstructive sleep apnea; Oculomotor nerve palsy; Onset; Osteoarthritis of the small joints of the hand; Pectus carinatum; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Platyspondyly; Progressive distal muscle weakness; Progressive distal muscular atrophy; Proximal femoral metaphyseal irregularity; Proximal lower limb amyotrophy; Radial deviation of finger; Relatively short spine; Respiratory failure; Rough bone trabeculation; Scapular muscle atrophy; Scapular winging; Scapuloperoneal amyotrophy; Scoliosis; Sensorineural hearing impairment; Sensory neuropathy; Severe carpal ossification delay; Severe short stature; Short distal phalanx of finger; Short distal phalanx of toe; Short femoral neck; Short finger; Short middle phalanx of finger; Short middle phalanx of toe; Short neck; Short stature; Short thorax; Shortening of all distal phalanges of the toes; Shortening of all middle phalanges of the toes; Shoulder girdle muscle atrophy; Skeletal dysplasia; Small hand; Spinal cord compression; Spinal muscular atrophy; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stridor; Talipes equinovarus; Torticollis; Urinary incontinence; Urinary urgency; Variable expressivity; Vocal cord paresis; Waddling gait
TRPV412q24.11100%gene with protein product605427Abducens palsy; Abnormal cortical bone morphology; Abnormal enchondral ossification; Abnormal form of the vertebral bodies; Abnormal metaphyseal vascular invasion; Abnormality of the eye; Abnormality of the face; Abnormality of the foot; Abnormality of the intervertebral disk; Abnormality of the metaphysis; Abnormality of the rib cage; Abnormality of the ribs; Absent primary metaphyseal spongiosa; Amyoplasia; Anisospondyly; Areflexia; Arthrogryposis multiplex congenita; Arthropathy; Autosomal dominant inheritance; Barrel-shaped chest; Brachydactyly; Brachytelomesophalangy; Broad-based gait; Cachexia; Carpal bone hypoplasia; Caudal appendage; Childhood-onset short-trunk short stature; Clinodactyly; Coxa vara; Decreased distal sensory nerve action potential; Decreased fetal movement; Delayed skeletal maturation; Depressed nasal bridge; Diaphragmatic weakness; Disproportionate short-trunk short stature; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Dumbbell-shaped metaphyses; Elbow flexion contracture; Elevated serum creatine phosphokinase; Enlarged joints; Epiphyseal dysplasia; Facial palsy; Flared femoral metaphysis; Flared humeral metaphysis; Flared metaphysis; Flat acetabular roof; Flexion contracture; Foot dorsiflexor weakness; Gait disturbance; Genu valgum; Gowers sign; Halberd-shaped pelvis; Hammertoe; Hand muscle atrophy; High forehead; Hip contracture; Hip dysplasia; Hyperlordosis; Hypermetropia; Hyperplasia of the femoral trochanters; Hypoplasia of the odontoid process; Hypoplastic cervical vertebrae; Hyporeflexia; Incomplete penetrance; Increased vertebral height; Intercostal muscle weakness; Irregular acetabular roof; Irregular, rachitic-like metaphyses; Joint stiffness; Juvenile onset; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long coccyx; Long thorax; Metatarsus adductus; Micromelia; Motor delay; Motor polyneuropathy; Muscle fiber splitting; Muscular hypotonia; Narrow chest; Nonprogressive; Nonprogressive muscular atrophy; Obstructive sleep apnea; Oculomotor nerve palsy; Onset; Osteoarthritis of the small joints of the hand; Pectus carinatum; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Platyspondyly; Progressive distal muscle weakness; Progressive distal muscular atrophy; Proximal femoral metaphyseal irregularity; Proximal lower limb amyotrophy; Radial deviation of finger; Relatively short spine; Respiratory failure; Rough bone trabeculation; Scapular muscle atrophy; Scapular winging; Scapuloperoneal amyotrophy; Scoliosis; Sensorineural hearing impairment; Sensory neuropathy; Severe carpal ossification delay; Severe short stature; Short distal phalanx of finger; Short distal phalanx of toe; Short femoral neck; Short finger; Short middle phalanx of finger; Short middle phalanx of toe; Short neck; Short stature; Short thorax; Shortening of all distal phalanges of the toes; Shortening of all middle phalanges of the toes; Shoulder girdle muscle atrophy; Skeletal dysplasia; Small hand; Spinal cord compression; Spinal muscular atrophy; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stridor; Talipes equinovarus; Torticollis; Urinary incontinence; Urinary urgency; Variable expressivity; Vocal cord paresis; Waddling gait
TTC21B2q24.399.99%gene with protein product612014Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Cone-shaped epiphysis; Micromelia; Narrow chest; Nephronophthisis; Respiratory insufficiency; Retinal degeneration; Short foot; Short long bone; Short ribs; Short stature; Short thorax; Skeletal dysplasia; Stage 5 chronic kidney diseaseHeterotaxy ; Nephrotic Syndrome ; Short-Rib Thoracic Dysplasia
TTC21B2q24.399.99%gene with protein product612014Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Cone-shaped epiphysis; Micromelia; Narrow chest; Nephronophthisis; Respiratory insufficiency; Retinal degeneration; Short foot; Short long bone; Short ribs; Short stature; Short thorax; Skeletal dysplasia; Stage 5 chronic kidney diseaseHeterotaxy ; Nephrotic Syndrome ; Short-Rib Thoracic Dysplasia
UBA1Xp11.3100%gene with protein product314370A1S9T, GXP1, UBE1Abnormality of metabolism/homeostasis; Adducted thumb; Areflexia; Arthrogryposis multiplex congenita; Bilateral single transverse palmar creases; Camptodactyly of finger; Cognitive impairment; Cryptorchidism; Decreased fetal movement; Degeneration of anterior horn cells; Dolichocephaly; Facial palsy; Failure to thrive in infancy; Flexion contracture; Gait disturbance; Hypospadias; Inguinal hernia; Joint stiffness; Kyphosis; Long philtrum; Micrognathia; Micropenis; Multiple joint contractures; Muscular hypotonia; Myopathic facies; Myopathy; Narrow chest; Proximal placement of thumb; Ptosis; Respiratory insufficiency due to muscle weakness; Scoliosis; Severe muscular hypotonia; Short neck; Short nose; Spinal muscular atrophy; Tongue fasciculations; Wide nasal bridge; X-linked recessive inheritance
UPF3BXq2499.88%gene with protein product300298MRX62, UPF3BP1, UPF3BP2, UPF3BP3Abnormality of the musculature; Aplasia/Hypoplasia of the corpus callosum; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Disproportionate tall stature; Frontal bossing; Growth abnormality; High forehead; High palate; Hypoplasia of the maxilla; Intellectual disability; Joint hyperflexibility; Kyphosis; Long face; Long foot; Macrocephaly; Macroorchidism; Mandibular prognathia; Micrognathia; Muscular hypotonia; Narrow chest; Narrow face; Nasal speech; Neurological speech impairment; Pectus carinatum; Pectus excavatum; Prominent forehead; Prominent nasal bridge; Scoliosis; Short philtrum; X-linked recessive inheritance
WDR194p1499.92%gene with protein product608151Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the clavicle; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Anteverted nares;