XomeDxSlice Tool

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

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Phenotypes
Severe short stature

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADAMTS25q35.3100%gene with protein product604539Abnormality of primary molar morphology; Abnormality of subcutaneous fat tissue; Aphasia; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Blepharochalasis; Blue sclerae; Bruising susceptibility; Coxa valga; Coxa vara; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Downslanted palpebral fissures; Dysphasia; Echolalia; Epicanthus; Esophagitis; Everted lower lip vermilion; Excessive wrinkled skin; Femoral hernia; Fragile skin; Frontal open bite; Gastroesophageal reflux; Gingival bleeding; Gingival hyperkeratosis; Gingival overgrowth; Hiatus hernia; Hip dislocation; Hip dysplasia; Hirsutism; Hyperextensible skin; Hypodontia; Inguinal hernia; Joint hyperflexibility; Joint laxity; Joint stiffness; Micrognathia; Micromelia; Motor delay; Muscular hypotonia; Mutism; Myopia; Osteomalacia; Osteopenia; Osteoporosis; Premature birth; Premature rupture of membranes; Prolonged bleeding time; Recurrent mandibular subluxations; Redundant skin; Retrognathia; Rickets; Scarring; Scoliosis; Severe short stature; Short phalanx of finger; Short stature; Short toe; Soft, doughy skin; Spontaneous neonatal pneumothorax; Thick vermilion border; Thin skin; Umbilical hernia; Wide anterior fontanel
ALDH18A110q24.1100%gene with protein product138250GSAS, PYCS, SPG9Abnormal facial shape; Abnormal upper motor neuron morphology; Abnormality of pelvic girdle bone morphology; Adducted thumb; Athetosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bowel diverticulosis; Brachycephaly; Brisk reflexes; Broad forehead; Carpal bone hypoplasia; Cataract; Congenital cataract; Congenital hip dislocation; Corneal arcus; Corneal opacity; Cutis laxa; Delayed cranial suture closure; Delayed skeletal maturation; Dysarthria; Dysfunction of lateral corticospinal tracts; Failure to thrive; Feeding difficulties; Frontal bossing; Full cheeks; Gait disturbance; Gastroesophageal reflux; Generalized amyotrophy; Generalized hypotonia; Genetic anticipation; Global developmental delay; Hernia; Hiatus hernia; Hip dislocation; Hyperextensible skin; Hyperreflexia; Hypertelorism; Hypotelorism; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Large fontanelles; Low-set ears; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Microcephaly; Motor polyneuropathy; Myopia; Narrow mouth; Narrow nasal ridge; Pectus excavatum; Pes cavus; Premature skin wrinkling; Progressive; Prominent forehead; Prominent superficial blood vessels; Protruding ear; Redundant skin; Scoliosis; Seizures; Severe short stature; Short stature; Skeletal muscle atrophy; Slow progression; Sparse hair; Spastic paraplegia; Specific learning disability; Sporadic; Strabismus; Talipes equinovarus; Thin skin; Triangular face; Umbilical hernia; Urinary retention; Vomiting; Wide cranial sutures; Wormian bones
ANTXR24q21.21100%gene with protein product608041Abnormal diaphysis morphology; Abnormality of dental morphology; Abnormality of the adrenal glands; Abnormality of the hair; Abnormality of the skull; Aplasia/Hypoplasia of the skin; Aplasia/Hypoplasia of the thymus; Autosomal recessive inheritance; Brachydactyly; Camptodactyly of finger; Chronic diarrhea; Coarse facial features; Death in infancy; Diarrhea; Failure to thrive; Feeding difficulties; Gingival fibromatosis; Gingival overgrowth; Hyperpigmentation of the skin; Immunodeficiency; Joint stiffness; Lymphedema; Macrocephaly; Micromelia; Muscular hypotonia; Osteolysis; Osteomalacia; Osteopenia; Osteoporosis; Papule; Polycystic ovaries; Progressive; Progressive flexion contractures; Recurrent bacterial infections; Recurrent fractures; Recurrent infections; Severe short stature; Short neck; Short palm; Skin ulcer; Steatorrhea; Subcutaneous nodule; Telangiectasia of the skin; Thickened skin; Urticaria; Variable expressivity
ATP8B118q21.31100%gene with protein product602397FIC1, BRIC, PFIC1Abnormal liver function tests during pregnancy; Autosomal dominant inheritance; Autosomal recessive inheritance; Cirrhosis; Conjugated hyperbilirubinemia; Diarrhea; Failure to thrive; Fat malabsorption; Fetal distress; Hearing impairment; Hepatomegaly; Increased serum bile acid concentration; Increased serum bile acid concentration during pregnancy; Infantile onset; Intermittent jaundice; Intrahepatic cholestasis; Intrahepatic cholestasis with episodic jaundice; Jaundice; Pancreatitis; Premature birth; Pruritus; Severe short stature; Splenomegaly
B3GALT61p36.33100%gene with protein product61529111 pairs of ribs; Abnormal bone ossification; Abnormal facial shape; Abnormality of epiphysis morphology; Abnormality of skin pigmentation; Abnormality of the metaphysis; Advanced ossification of carpal bones; Aortic valve stenosis; Arachnodactyly; Atrial septal defect; Atrophic scars; Autosomal recessive inheritance; Bicuspid aortic valve; Blue sclerae; Broad distal phalanx of finger; Cleft palate; Congenital myopia; Coxa valga; Cryptorchidism; Cupped ribs; Cutis laxa; Decreased body weight; Delayed proximal femoral epiphyseal ossification; Dislocated radial head; Ectopia lentis; Elbow dislocation; Epicanthus; Flared iliac wings; Flared metaphysis; Flaring of rib cage; Flat face; Flexion contracture; Fragile skin; Generalized hypotonia; Gingivitis; Global developmental delay; Hallux valgus; High palate; Hip dislocation; Hip subluxation; Hyperextensible skin; Hyperlordosis; Hypoplastic iliac body; Irregular vertebral endplates; Joint hyperflexibility; Joint laxity; Kyphoscoliosis; Kyphosis; Large iliac wings; Lipodystrophy; Long philtrum; Long toe; Long upper lip; Macrocephaly; Malar flattening; Metatarsus adductus; Micrognathia; Micromelia; Midface retrusion; Mitral regurgitation; Muscular hypotonia; Narrow mouth; Osteopenia; Osteoporosis; Oval face; Ovoid vertebral bodies; Palmoplantar cutis gyrata; Paraplegia; Pathologic fracture; Pes planus; Platyspondyly; Progeroid facial appearance; Prominent forehead; Proptosis; Pulmonic stenosis; Radial bowing; Radial head subluxation; Scoliosis; Severe short stature; Short femoral neck; Short foot; Short iliac bones; Short long bone; Short metacarpal; Short nail; Short neck; Short palm; Short stature; Skeletal dysplasia; Skeletal muscle atrophy; Slender long bone; Soft, doughy skin; Sparse and thin eyebrow; Sparse eyelashes; Sparse hair; Sparse scalp hair; Spinal cord compression; Spondyloepimetaphyseal dysplasia; Talipes equinovarus; Telecanthus; Testicular torsion; Thin skin; Ventricular septal defect; Wide nasal bridge
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
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
CDC4522q11.21100%gene with protein product603465CDC45L2, CDC45L2-3 toe syndactyly; Abnormality of epiphysis morphology; Abnormality of the ribs; Anal atresia; Anal stenosis; Anotia; Aplasia/Hypoplasia of the patella; Aplastic clavicles; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Bowing of the legs; Camptodactyly of finger; Choanal atresia; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Clubbing; Complete atrioventricular canal defect; Craniosynostosis; Cryptorchidism; Decreased body weight; Delayed skeletal maturation; Duodenal stenosis; Failure to thrive; Feeding difficulties; Global developmental delay; Hearing impairment; High palate; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Hypospadias; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microtia; Microtia, third degree; Myopia; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Preaxial polydactyly; Progressive microcephaly; Proptosis; Pulmonary hypoplasia; Respiratory distress; Respiratory failure; Retrognathia; Sagittal craniosynostosis; Scoliosis; Severe short stature; Short stature; Slender long bone; Strabismus; Thin eyebrow; Urethral stricture; Ventricular septal defect; Vesicoureteral reflux; Wide anterior fontanel
CDC617q21.299.92%gene with protein product602627CDC18LAbnormality of epiphysis morphology; Abnormality of the ribs; Anotia; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Elbow dislocation; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; High, narrow palate; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Intrauterine growth retardation; Irregular femoral epiphysis; Joint hyperflexibility; Long philtrum; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microtia; Microtia, third degree; Mild global developmental delay; Motor delay; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Prominent metopic ridge; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Slender long bone; Small earlobe; Triangular faceHeterotaxy
CDT116q24.3100%gene with protein product605525Abnormality of epiphysis morphology; Abnormality of the ribs; Anotia; Aplastic clavicles; Atresia of the external auditory canal; Autosomal recessive inheritance; Birth length less than 3rd percentile; Breast hypoplasia; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Emphysema; Failure to thrive; Feeding difficulties; Genu recurvatum; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Intrauterine growth retardation; Joint hyperflexibility; Lateral clavicle hook; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Microtia; Microtia, third degree; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Slender long bone; Thick lower lip vermilion
CKAP2L2q14.199.84%gene with protein product6161742-4 toe syndactyly; Aphasia; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Broad forehead; Cerebellar atrophy; Clinodactyly of the 5th finger; Cryptorchidism; Decreased body weight; Delayed skeletal maturation; Dysphasia; Dystonia; Echolalia; Finger syndactyly; Frontal bossing; Frontal hirsutism; Global developmental delay; Intellectual disability; Intrauterine growth retardation; Low hanging columella; Microcephaly; Microdontia; Mutism; Optic atrophy; Postnatal growth retardation; Prominent forehead; Prominent nasal bridge; Proptosis; Seizures; Severe short stature; Short philtrum; Single transverse palmar crease; Specific learning disability; Thin vermilion border; Underdeveloped nasal alae; Ventricular septal defect; Visual impairment; Wide nasal bridge; Wide noseDisorders of Sex Development
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
COMP19p13.11100%gene with protein product600310PSACH, EDM1, EPD1Abnormality of epiphysis morphology; Abnormality of the hip bone; Abnormality of the metaphysis; Arthralgia; Atlantoaxial dislocation; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Beaking of vertebral bodies; Brachydactyly; Broad femoral neck; Carpal bone hypoplasia; Cervical cord compression; Childhood onset short-limb short stature; Delayed epiphyseal ossification; Delayed skeletal maturation; Disproportionate short-limb short stature; Epiphyseal dysplasia; Flared femoral metaphysis; Fragmented epiphyses; Fragmented, irregular epiphyses; Gait disturbance; Generalized joint laxity; Genu recurvatum; Genu valgum; Genu varum; Hamartomatous polyposis; Heterogeneous; Hip dysplasia; Hip osteoarthritis; Hyperlordosis; Hypoplasia of the odontoid process; Intestinal polyposis; Irregular carpal bones; Irregular epiphyses; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphosis; Limitation of joint mobility; Limited elbow extension; Limited hip extension; Limited hip movement; Lumbar hyperlordosis; Micromelia; Mild short stature; Osteoarthritis; Ovoid vertebral bodies; Platyspondyly; Radial metaphyseal irregularity; Scoliosis; Sensory neuropathy; Severe short stature; Short distal phalanx of finger; Short femoral neck; Short foot; Short long bone; Short metacarpal; Short palm; Short phalanx of finger; Small epiphyses; Small epiphyses of the phalanges of the hand; Spatulate ribs; Ulnar deviation of the hand; Ulnar deviation of the wrist; Ulnar metaphyseal irregularity; Waddling gait
COX7BXq21.1100%gene with protein product300885Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal morphology of the nasolacrimal system; Abnormality of retinal pigmentation; Abnormality of the eyelashes; Anophthalmia; Aplasia cutis congenita; Arrhythmia; Congenital diaphragmatic hernia; Dermal atrophy; Dilated cardiomyopathy; Erythema; Global developmental delay; Hyperpigmentation of the skin; Hypertelorism; Hypertrophic cardiomyopathy; Hypopigmented skin patches; Mandibular aplasia; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Retrognathia; Sclerocornea; Severe short stature; Short chin; Short stature; Vitritis; Wide nasal bridge; Wide nose; X-linked dominant inheritance
CTSA20q13.1299.96%gene with protein product613111GSL, PPGBAbnormal vertebral morphology; Autosomal recessive inheritance; Cherry red spot of the macula; Coarse facial features; Conjunctival telangiectasia; Corneal opacity; Decreased beta-galactosidase activity; Dysostosis multiplex; Hearing impairment; Hemangioma; Intellectual disability; Opacification of the corneal stroma; Seizures; Severe short stature; Skeletal dysplasia
DHCR241p32.3100%gene with protein product606418DCEAbsent septum pellucidum; Agenesis of corpus callosum; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bifid uvula; Depressed nasal bridge; Failure to thrive; Feeding difficulties; Hydrocephalus; Intellectual disability; Intrauterine growth retardation; Large earlobe; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Muscle stiffness; Narrow mouth; Nystagmus; Partial agenesis of the corpus callosum; Phenotypic variability; Relative macrocephaly; Retrognathia; Rigidity; Seizures; Severe short stature; Short nose; Spasticity; Status epilepticus; Strabismus; Submucous cleft hard palate; VentriculomegalyDisorders of Sex Development
DLL319q13.2100%gene with protein product602768Abnormal form of the vertebral bodies; Abnormality of immune system physiology; Abnormality of the intervertebral disk; Abnormality of the odontoid process; Autosomal recessive inheritance; Block vertebrae; Death in infancy; Disproportionate short-trunk short stature; Hemivertebrae; Intrauterine growth retardation; Kyphosis; Recurrent respiratory infections; Respiratory insufficiency; Rib fusion; Rib segmentation abnormalities; Scoliosis; Severe short stature; Short neck; Short stature; Short thorax; Vertebral segmentation defect
DVL11p36.33100%gene with protein product601365Anteverted nares; Autosomal dominant inheritance; Bifid distal phalanx of toe; Bifid tongue; Brachydactyly; Broad thumb; Broad toe; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypoplasia; Congenital onset; Cryptorchidism; Curly eyelashes; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Duplication of the distal phalanx of hand; Epicanthus; Euryblepharon; Flat face; Frontal bossing; Gingival overgrowth; Global developmental delay; Hemivertebrae; High forehead; High, narrow palate; Hydronephrosis; Hypertelorism; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic labia minora; Inguinal hernia; Intellectual disability; Long eyelashes; Long palpebral fissure; Long philtrum; Macrocephaly; Macroglossia; Malar flattening; Median cleft lip and palate; Mesomelia; Micrognathia; Micromelia; Micropenis; Midface retrusion; Nevus flammeus; Open bite; Pectus excavatum; Posteriorly rotated ears; Prominent forehead; Proptosis; Radial deviation of finger; Renal duplication; Retrognathia; Right ventricular outlet obstruction; Severe short stature; Short distal phalanx of finger; Short hard palate; Short middle phalanx of the 5th finger; Short nose; Short palm; Thin upper lip vermilion; Triangular mouth; Umbilical hernia; Upslanted palpebral fissure; Wide anterior fontanel; Wide nasal bridge; Wide nose
DVL33q27.1100%gene with protein product601368Anteverted nares; Autosomal dominant inheritance; Bifid tongue; Brachydactyly; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypoplasia; Cryptorchidism; Curly eyelashes; Depressed nasal bridge; Downturned corners of mouth; Epicanthus; Euryblepharon; Frontal bossing; Gingival overgrowth; Hemivertebrae; High, narrow palate; Hypertelorism; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic labia minora; Hypoplastic right heart; Long eyelashes; Long palpebral fissure; Long philtrum; Macrocephaly; Median cleft lip and palate; Mesomelia; Micrognathia; Micromelia; Midface retrusion; Open bite; Patent ductus arteriosus; Patent foramen ovale; Pectus excavatum; Prominent forehead; Proptosis; Pulmonary artery atresia; Retrognathia; Severe short stature; Short nose; Short palm; Short stature; Tricuspid regurgitation; Umbilical hernia; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge; Wide nose
ERCC416p13.12100%gene with protein product133520XPF, FANCQAbnormality of amino acid metabolism; Abnormality of chromosome stability; Abnormality of the dentition; Absent thumb; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Arteriosclerosis; Arthralgia; Ascites; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Biliary atresia; Bone marrow hypocellularity; Cachexia; Cataract; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Elevated hepatic transaminases; Erythema; Esophageal atresia; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; High pitched voice; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertension; Hypogonadism; Hypopigmented skin patches; Hypoplasia of dental enamel; Infantile onset; Intellectual disability; Intellectual disability, mild; Intellectual disability, progressive; Irregular hyperpigmentation; Keratitis; Lack of subcutaneous fatty tissue; Leukopenia; Low-set ears; Melanoma; Microcephaly; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Papule; Phenotypic variability; Poikiloderma; Poor coordination; Prematurely aged appearance; Pyridoxine-responsive sideroblastic anemia; Retinopathy; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short palpebral fissure; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Thrombocytopenia; Tracheoesophageal fistula; Urticaria; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
ERCC610q11.23100%gene with protein product609413CKN2Abnormal auditory evoked potentials; Abnormal nasal morphology; Abnormal peripheral myelination; Abnormality of immune system physiology; Abnormality of skin pigmentation; Abnormality of the hair; Abnormality of the pinna; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anhidrosis; Aplasia/Hypoplasia of the cerebellum; Areflexia; Arrhythmia; Arthrogryposis multiplex congenita; Ataxia; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Camptodactyly; Camptodactyly of finger; Carious teeth; Cataract; Cerebellar atrophy; Cerebellar calcifications; Cerebellar hypoplasia; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Conjunctivitis; Coxa valga; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Decreased lacrimation; Decreased nerve conduction velocity; Deep longitudinal plantar crease; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed eruption of primary teeth; Delayed myelination; Dental malocclusion; Dermal atrophy; Dry hair; Dry skin; Ectropion; Elbow flexion contracture; Elevated circulating follicle stimulating hormone level; Entropion; Everted lower lip vermilion; Failure to thrive; Feeding difficulties in infancy; Freckling; Generalized hypotonia; Gliosis; Gonadal hypoplasia; Hepatomegaly; Heterogeneous; Hirsutism; Hypermetropia; Hypertension; Hypertonia; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the iris; Hypoplastic iliac wing; Hypoplastic pelvis; Hyporeflexia; Increased cellular sensitivity to UV light; Infantile onset; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Ivory epiphyses of the phalanges of the hand; Joint contracture of the hand; Joint stiffness; Keratitis; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long philtrum; Loss of facial adipose tissue; Mandibular prognathia; Mental deterioration; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscle weakness; Muscular hypotonia; Neoplasm; Normal pressure hydrocephalus; Nystagmus; Oligomenorrhea; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic atrophy; Osteoporosis; Patchy demyelination of subcortical white matter; Peripheral dysmyelination; Photophobia; Pigmentary retinopathy; Pigmentation anomalies of sun-exposed skin; Poikiloderma; Polyneuropathy; Postnatal growth retardation; Progeroid facial appearance; Prominent metopic ridge; Prominent nasal bridge; Proteinuria; Reduced subcutaneous adipose tissue; Reduced tendon reflexes; Renal insufficiency; Rocker bottom foot; Second metatarsal posteriorly placed; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Severe failure to thrive; Severe global developmental delay; Severe short stature; Short neck; Short stature; Slender nose; Sloping forehead; Small for gestational age; Sparse hair; Spasticity; Splenomegaly; Square pelvis bone; Strabismus; Subcortical white matter calcifications; Telangiectasia; Thickened calvaria; Thin vermilion border; Tremor; Visual impairment; Wide intermamillary distance; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes
ERCC610q11.23100%gene with protein product609413CKN2Abnormal auditory evoked potentials; Abnormal nasal morphology; Abnormal peripheral myelination; Abnormality of immune system physiology; Abnormality of skin pigmentation; Abnormality of the hair; Abnormality of the pinna; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anhidrosis; Aplasia/Hypoplasia of the cerebellum; Areflexia; Arrhythmia; Arthrogryposis multiplex congenita; Ataxia; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Camptodactyly; Camptodactyly of finger; Carious teeth; Cataract; Cerebellar atrophy; Cerebellar calcifications; Cerebellar hypoplasia; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Conjunctivitis; Coxa valga; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Decreased lacrimation; Decreased nerve conduction velocity; Deep longitudinal plantar crease; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed eruption of primary teeth; Delayed myelination; Dental malocclusion; Dermal atrophy; Dry hair; Dry skin; Ectropion; Elbow flexion contracture; Elevated circulating follicle stimulating hormone level; Entropion; Everted lower lip vermilion; Failure to thrive; Feeding difficulties in infancy; Freckling; Generalized hypotonia; Gliosis; Gonadal hypoplasia; Hepatomegaly; Heterogeneous; Hirsutism; Hypermetropia; Hypertension; Hypertonia; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the iris; Hypoplastic iliac wing; Hypoplastic pelvis; Hyporeflexia; Increased cellular sensitivity to UV light; Infantile onset; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Ivory epiphyses of the phalanges of the hand; Joint contracture of the hand; Joint stiffness; Keratitis; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long philtrum; Loss of facial adipose tissue; Mandibular prognathia; Mental deterioration; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscle weakness; Muscular hypotonia; Neoplasm; Normal pressure hydrocephalus; Nystagmus; Oligomenorrhea; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic atrophy; Osteoporosis; Patchy demyelination of subcortical white matter; Peripheral dysmyelination; Photophobia; Pigmentary retinopathy; Pigmentation anomalies of sun-exposed skin; Poikiloderma; Polyneuropathy; Postnatal growth retardation; Progeroid facial appearance; Prominent metopic ridge; Prominent nasal bridge; Proteinuria; Reduced subcutaneous adipose tissue; Reduced tendon reflexes; Renal insufficiency; Rocker bottom foot; Second metatarsal posteriorly placed; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Severe failure to thrive; Severe global developmental delay; Severe short stature; Short neck; Short stature; Slender nose; Sloping forehead; Small for gestational age; Sparse hair; Spasticity; Splenomegaly; Square pelvis bone; Strabismus; Subcortical white matter calcifications; Telangiectasia; Thickened calvaria; Thin vermilion border; Tremor; Visual impairment; Wide intermamillary distance; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes
FAM111A11q12.1100%gene with protein product615292Abnormal circulating follicle-stimulating hormone level; Abnormality of the medullary cavity of the long bones; Anemia; Aniridia; Ankyloglossia; Ascites; Autosomal dominant inheritance; Basal ganglia calcification; Bilateral microphthalmos; Brachydactyly; Calvarial osteosclerosis; Carious teeth; Congenital cataract; Congenital hypoparathyroidism; Cortical thickening of long bone diaphyses; Decreased skull ossification; Decreased testicular size; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed skeletal maturation; Failure to thrive; Flared metaphysis; Global developmental delay; Hydrocephalus; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypocalcemia; Hypocalcemic seizures; Hypocalcemic tetany; Hypoparathyroidism; Hypoplastic spleen; Increased bone mineral density; Intrauterine growth retardation; Macrocephaly; Micropenis; Microphthalmia; Papilledema; Postnatal growth retardation; Postnatal macrocephaly; Prominent forehead; Retinal calcification; Seizures; Severe short stature; Short stature; Slender long bone; Small for gestational age; Stenosis of the medullary cavity of the long bones; Thickened cortex of long bones; Thin long bone diaphyses; Transient hypophosphatemia
FBN115q21.1100%gene with protein product134797FBN, MFS1, WMSAbnormal aortic valve morphology; Abnormal cardiac ventricle morphology; Abnormal echocardiogram; Abnormal eyebrow morphology; Abnormality iris morphology; Abnormality of dental morphology; Abnormality of the sternum; Adducted thumb; Anteverted nares; Aortic aneurysm; Aortic dissection; Aortic regurgitation; Aortic root aneurysm; Aortic valve stenosis; Arachnodactyly; Ascending aortic dissection; Ascending tubular aorta aneurysm; Autosomal dominant inheritance; Blindness; Blue sclerae; Brachycephaly; Brachydactyly; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanges of the hand; Broad ribs; Broad skull; Bruising susceptibility; Bulbous nose; Camptodactyly of finger; Cardiomegaly; Cataract; Chest pain; Cognitive impairment; Communicating hydrocephalus; Cone-shaped epiphysis; Congestive heart failure; Coronary artery atherosclerosis; Craniosynostosis; Crumpled ear; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Decreased muscle mass; Decreased nerve conduction velocity; Decreased testicular size; Deep philtrum; Deeply set eye; Delayed skeletal maturation; Dental crowding; Depressed nasal bridge; Descending aortic dissection; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dural ectasia; Ectopia lentis; Emphysema; Enlarged thorax; Exertional dyspnea; Feeding difficulties; Fifth metacarpal with ulnar notch; Flexion contracture; Frontal bossing; Full cheeks; Genu recurvatum; Glaucoma; Hammertoe; Heart murmur; Hepatomegaly; High forehead; High myopia; High palate; High, narrow palate; Hoarse voice; Hyperextensibility of the finger joints; Hypertelorism; Hypertension; Hypoplasia of the iris; Hypoplasia of the maxilla; Hyporeflexia; Hypoxemia; Incisional hernia; Increased arm span; Increased axial length of the globe; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Iridodonesis; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Kyphoscoliosis; Lack of skin elasticity; Left ventricular failure; Limitation of joint mobility; Lipoatrophy; Long eyelashes; Long face; Long philtrum; Long toe; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Mandibular prognathia; Medial rotation of the medial malleolus; Megalocornea; Micrognathia; Microspherophakia; Misalignment of teeth; Mitral annular calcification; Mitral regurgitation; Mitral stenosis; Mitral valve prolapse; Motor delay; Muscular hypotonia; Myopia; Narrow face; Narrow mouth; Narrow nose; Narrow palate; Neonatal respiratory distress; Oligohydramnios; Ovoid vertebral bodies; Paroxysmal dyspnea; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pes cavus; Pes planus; Pes valgus; Pneumothorax; Posteriorly rotated ears; Premature birth; Premature osteoarthritis; Prominent forehead; Prominent nasal bridge; Proportionate short stature; Proptosis; Protrusio acetabuli; Ptosis; Pulmonary arterial hypertension; Pulmonary artery dilatation; Pulmonic stenosis; Reduced subcutaneous adipose tissue; Respiratory insufficiency; Retinal detachment; Retrognathia; Round face; Scaphocephaly; Scoliosis; Severe short stature; Shallow anterior chamber; Shallow orbits; Short foot; Short long bone; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short stature; Short thumb; Small for gestational age; Small hand; Smooth philtrum; Spinal canal stenosis; Spondylolisthesis; Stiff skin; Strabismus; Striae distensae; Talipes calcaneovarus; Tall stature; Telecanthus; Thick lower lip vermilion; Thickened skin; Thin bony cortex; Thin upper lip vermilion; Toe walking; Tricuspid regurgitation; Tricuspid valve prolapse; Umbilical hernia; Ventricular septal defect; Wide nasal bridge
FBN115q21.1100%gene with protein product134797FBN, MFS1, WMSAbnormal aortic valve morphology; Abnormal cardiac ventricle morphology; Abnormal echocardiogram; Abnormal eyebrow morphology; Abnormality iris morphology; Abnormality of dental morphology; Abnormality of the sternum; Adducted thumb; Anteverted nares; Aortic aneurysm; Aortic dissection; Aortic regurgitation; Aortic root aneurysm; Aortic valve stenosis; Arachnodactyly; Ascending aortic dissection; Ascending tubular aorta aneurysm; Autosomal dominant inheritance; Blindness; Blue sclerae; Brachycephaly; Brachydactyly; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanges of the hand; Broad ribs; Broad skull; Bruising susceptibility; Bulbous nose; Camptodactyly of finger; Cardiomegaly; Cataract; Chest pain; Cognitive impairment; Communicating hydrocephalus; Cone-shaped epiphysis; Congestive heart failure; Coronary artery atherosclerosis; Craniosynostosis; Crumpled ear; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Decreased muscle mass; Decreased nerve conduction velocity; Decreased testicular size; Deep philtrum; Deeply set eye; Delayed skeletal maturation; Dental crowding; Depressed nasal bridge; Descending aortic dissection; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dural ectasia; Ectopia lentis; Emphysema; Enlarged thorax; Exertional dyspnea; Feeding difficulties; Fifth metacarpal with ulnar notch; Flexion contracture; Frontal bossing; Full cheeks; Genu recurvatum; Glaucoma; Hammertoe; Heart murmur; Hepatomegaly; High forehead; High myopia; High palate; High, narrow palate; Hoarse voice; Hyperextensibility of the finger joints; Hypertelorism; Hypertension; Hypoplasia of the iris; Hypoplasia of the maxilla; Hyporeflexia; Hypoxemia; Incisional hernia; Increased arm span; Increased axial length of the globe; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Iridodonesis; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Kyphoscoliosis; Lack of skin elasticity; Left ventricular failure; Limitation of joint mobility; Lipoatrophy; Long eyelashes; Long face; Long philtrum; Long toe; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Mandibular prognathia; Medial rotation of the medial malleolus; Megalocornea; Micrognathia; Microspherophakia; Misalignment of teeth; Mitral annular calcification; Mitral regurgitation; Mitral stenosis; Mitral valve prolapse; Motor delay; Muscular hypotonia; Myopia; Narrow face; Narrow mouth; Narrow nose; Narrow palate; Neonatal respiratory distress; Oligohydramnios; Ovoid vertebral bodies; Paroxysmal dyspnea; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pes cavus; Pes planus; Pes valgus; Pneumothorax; Posteriorly rotated ears; Premature birth; Premature osteoarthritis; Prominent forehead; Prominent nasal bridge; Proportionate short stature; Proptosis; Protrusio acetabuli; Ptosis; Pulmonary arterial hypertension; Pulmonary artery dilatation; Pulmonic stenosis; Reduced subcutaneous adipose tissue; Respiratory insufficiency; Retinal detachment; Retrognathia; Round face; Scaphocephaly; Scoliosis; Severe short stature; Shallow anterior chamber; Shallow orbits; Short foot; Short long bone; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short stature; Short thumb; Small for gestational age; Small hand; Smooth philtrum; Spinal canal stenosis; Spondylolisthesis; Stiff skin; Strabismus; Striae distensae; Talipes calcaneovarus; Tall stature; Telecanthus; Thick lower lip vermilion; Thickened skin; Thin bony cortex; Thin upper lip vermilion; Toe walking; Tricuspid regurgitation; Tricuspid valve prolapse; Umbilical hernia; Ventricular septal defect; Wide nasal bridge
FGFR18p11.23100%gene with protein product136350FLT2, KAL22-3 toe syndactyly; Abnormal anterior chamber morphology; Abnormal form of the vertebral bodies; Abnormal morphology of the nasolacrimal system; Abnormality of body height; Abnormality of cardiovascular system morphology; Abnormality of the clavicle; Abnormality of the eyelashes; Abnormality of the nasopharynx; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Absent septum pellucidum; Agenesis of corpus callosum; Alopecia; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Arachnoid cyst; Arnold-Chiari malformation; Atrial septal defect; Autosomal dominant inheritance; Bicoronal synostosis; Bimanual synkinesia; Bone cyst; Bowing of the long bones; Brachycephaly; Brachyturricephaly; Breast hypoplasia; Broad foot; Broad hallux; Broad hallux phalanx; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanx; Broad thumb; Bronchomalacia; Calcaneonavicular fusion; Capillary hemangiomas; Cartilaginous trachea; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Choanal atresia; Choanal stenosis; Chordee; Cleft palate; Cleft upper lip; Cloverleaf skull; Corneal opacity; Coronal craniosynostosis; Cortical dysplasia; Craniofacial hyperostosis; Craniosynostosis; Cryptorchidism; Dandy-Walker malformation; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Depressivity; Diabetes insipidus; Downslanted palpebral fissures; Dysphasia; Echolalia; Ectrodactyly; Elbow ankylosis; Encephalocele; Epibulbar dermoid; Epicanthus; Erectile abnormalities; Eunuchoid habitus; Eyelid coloboma; Failure to thrive; Failure to thrive in infancy; Female hypogonadism; Finger syndactyly; Frontal bossing; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hallux varus; Hemiplegia/hemiparesis; Heterogeneous; High forehead; High palate; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hypernatremia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal bone; Hypoplasia of the iris; Hypoplasia of the maxilla; Hypoplasia of the ovary; Hypoplasia of the uterus; Hypoplastic scapulae; Hypoplastic toenails; Hyposmia; Hypospadias; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Incomplete penetrance; Increased female libido; Increased susceptibility to fractures; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Limb undergrowth; Linear hyperpigmentation; Lipodystrophy; Lipoma; Lipomas of the central neryous system; Lobar holoprosencephaly; Long penis; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hemivertebrae; Macrocephaly; Malar flattening; Male hypogonadism; Mandibular prognathia; Meckel diverticulum; Microcephaly; Microdontia; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Multiple lipomas; Multiple unerupted teeth; Muscle stiffness; Mutism; Nasal obstruction; Neonatal hypotonia; Neoplasm of the skeletal system; Nevus flammeus; Non-midline cleft lip; Non-obstructive azoospermia; Nystagmus; Oligodontia; Omphalocele; Osteolysis; Osteopenia; Osteoporosis; Pelvic kidney; Peripheral pulmonary artery stenosis; Platyspondyly; Posteriorly rotated ears; Preauricular skin tag; Primary amenorrhea; Prominent supraorbital ridges; Proptosis; Protruding ear; Pseudoarthrosis; Ptosis; Pulmonary arterial hypertension; Reduced bone mineral density; Reduced number of teeth; Respiratory distress; Respiratory insufficiency; Retinopathy; Rhizomelia; Rigidity; Sclerocornea; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Septo-optic dysplasia; Severe short stature; Shallow orbits; Short foot; Short hallux; Short metacarpal; Short metatarsal; Short middle phalanx of toe; Short neck; Short nose; Short palm; Short phalanx of finger; Short stature; Shortening of all middle phalanges of the fingers; Somatic mosaicism; Sparse body hair; Spasticity; Split hand; Sporadic; Strabismus; Subcortical cerebral atrophy; Subcutaneous lipoma; Subcutaneous nodule; Subvalvular aortic stenosis; Syndactyly; Synophrys; Telecanthus; Toe syndactyly; Tricuspid valve prolapse; Trigonocephaly; Unerupted tooth; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide intermamillary distance; Wide nasal bridge; Wide nose; XanthomatosisDisorders of Sex Development
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
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
FZD217q21.31100%gene with protein product600667Anteverted nares; Bifid scrotum; Bifid tongue; Brachydactyly; Clinodactyly of the 5th finger; Clitoral hypoplasia; Cryptorchidism; Curly eyelashes; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Epicanthus; Euryblepharon; Frontal bossing; Gingival overgrowth; Hemivertebrae; High, narrow palate; Hypertelorism; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic labia minora; Long eyelashes; Long palpebral fissure; Long philtrum; Macrocephaly; Malar flattening; Median cleft lip and palate; Micrognathia; Micromelia; Midface retrusion; Open bite; Pectus excavatum; Prominent forehead; Proptosis; Retrognathia; Rhizomelia; Severe short stature; Short 1st metacarpal; Short humerus; Short nose; Short palm; Umbilical hernia; Upslanted palpebral fissure; Wide nasal bridge; Wide nose
GH117q23.3100%gene with protein product139250Abnormality of metabolism/homeostasis; Abnormality of the face; Abnormality of the immune system; Autosomal dominant inheritance; Autosomal recessive inheritance; Delayed skeletal maturation; Growth hormone deficiency; Hypoglycemia; Pituitary dwarfism; Severe short stature; Short statureObesity
GH117q23.3100%gene with protein product139250Abnormality of metabolism/homeostasis; Abnormality of the face; Abnormality of the immune system; Autosomal dominant inheritance; Autosomal recessive inheritance; Delayed skeletal maturation; Growth hormone deficiency; Hypoglycemia; Pituitary dwarfism; Severe short stature; Short statureObesity
GHR5p13.1-p1299.58%gene with protein product600946Abnormal facial shape; Abnormal joint morphology; Abnormality of metabolism/homeostasis; Abnormality of the elbow; Aplasia/Hypoplasia involving the nose; Autosomal recessive inheritance; Brachydactyly; Decreased serum insulin-like growth factor 1; Delayed eruption of teeth; Delayed menarche; Delayed puberty; Delayed skeletal maturation; High forehead; High pitched voice; Hypoglycemia; Hypoplasia of penis; Hypoplastic nasal bridge; Microdontia; Micrognathia; Motor delay; Reduced number of teeth; Severe short stature; Short long bone; Short stature; Short toe; Small face; Truncal obesity; Underdeveloped supraorbital ridgesObesity
GHR5p13.1-p1299.58%gene with protein product600946Abnormal facial shape; Abnormal joint morphology; Abnormality of metabolism/homeostasis; Abnormality of the elbow; Aplasia/Hypoplasia involving the nose; Autosomal recessive inheritance; Brachydactyly; Decreased serum insulin-like growth factor 1; Delayed eruption of teeth; Delayed menarche; Delayed puberty; Delayed skeletal maturation; High forehead; High pitched voice; Hypoglycemia; Hypoplasia of penis; Hypoplastic nasal bridge; Microdontia; Micrognathia; Motor delay; Reduced number of teeth; Severe short stature; Short long bone; Short stature; Short toe; Small face; Truncal obesity; Underdeveloped supraorbital ridgesObesity
GLB13p22.3100%gene with protein product611458ELNR1Abnormal heart valve morphology; Abnormality of blood and blood-forming tissues; Abnormality of the face; Abnormality of the liver; Abnormality of the spleen; Abnormality of the urinary system; Angiokeratoma corporis diffusum; Anterior beaking of lumbar vertebrae; Aortic valve stenosis; Ataxia; Autosomal recessive inheritance; Beaking of vertebral bodies; Carious teeth; Cerebral atrophy; Cerebral degeneration; Cervical myelopathy; Cervical subluxation; Cherry red spot of the macula; Coarse facial features; Congestive heart failure; Constricted iliac wings; Coxa valga; Death in infancy; Decreased beta-galactosidase activity; Depressed nasal ridge; Developmental stagnation; Diffuse cerebral atrophy; Dilated cardiomyopathy; Disproportionate short-trunk short stature; Dystonia; Epiphyseal deformities of tubular bones; Flared iliac wings; Flaring of rib cage; Foam cells; Frontal bossing; Gait disturbance; Generalized myoclonic seizures; Genu valgum; Gingival overgrowth; Grayish enamel; Hearing impairment; Hepatomegaly; Hyperlordosis; Hypertelorism; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoplasia of the odontoid process; Hypoplastic acetabulae; Hypoplastic vertebral bodies; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intimal thickening in the coronary arteries; Joint laxity; Joint stiffness; Juvenile onset; Keratan sulfate excretion in urine; Kyphosis; Mandibular prognathia; Metaphyseal widening; Opacification of the corneal stroma; Optic atrophy; Osteoporosis; Ovoid vertebral bodies; Platyspondyly; Pointed proximal second through fifth metacarpals; Progressive psychomotor deterioration; Prominent sternum; Recurrent upper respiratory tract infections; Restrictive ventilatory defect; Scoliosis; Sea-blue histiocytosis; Severe short stature; Short neck; Short stature; Skeletal muscle atrophy; Slurred speech; Spastic tetraplegia; Splenomegaly; Thickened ribs; Ulnar deviation of the wrist; Vacuolated lymphocytes; Ventriculomegaly; Wide mouth; Widely spaced teeth
GMNN6p22.397.96%gene with protein product602842Abnormality of epiphysis morphology; Abnormality of the ribs; Anotia; Aplastic clavicles; Atresia of the external auditory canal; Autosomal dominant inheritance; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Conductive hearing impairment; Craniosynostosis; Cryptorchidism; Delayed puberty; Delayed skeletal maturation; Depressed nasal ridge; Failure to thrive; Feeding difficulties; Growth hormone deficiency; High, narrow palate; Hip dysplasia; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Intrauterine growth retardation; Joint hyperflexibility; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Microtia, third degree; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Recurrent respiratory infections; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Short middle phalanx of finger; Slender long bone; Stenosis of the external auditory canal; Umbilical hernia
GORAB1q24.2100%gene with protein product607983SCYL1BP1Autosomal recessive inheritance; Beaking of vertebral bodies; Biconcave vertebral bodies; Camptodactyly; Cutis laxa; Deeply set eye; Delayed speech and language development; Femoral bowing; Hip dislocation; Hyperextensibility of the finger joints; Hyperextensible skin; Hypoplasia of the maxilla; Increased susceptibility to fractures; Intellectual disability; Irregular vertebral endplates; Joint hyperflexibility; Malar flattening; Mandibular prognathia; Microcephaly; Muscular hypotonia; Osteopenia; Osteoporosis; Periodontitis; Platyspondyly; Recurrent fractures; Redundant skin; Scoliosis; Severe short stature; Thin skin; Tibial bowing; Vertebral compression fractures; Wormian bones
GORAB1q24.2100%gene with protein product607983SCYL1BP1Autosomal recessive inheritance; Beaking of vertebral bodies; Biconcave vertebral bodies; Camptodactyly; Cutis laxa; Deeply set eye; Delayed speech and language development; Femoral bowing; Hip dislocation; Hyperextensibility of the finger joints; Hyperextensible skin; Hypoplasia of the maxilla; Increased susceptibility to fractures; Intellectual disability; Irregular vertebral endplates; Joint hyperflexibility; Malar flattening; Mandibular prognathia; Microcephaly; Muscular hypotonia; Osteopenia; Osteoporosis; Periodontitis; Platyspondyly; Recurrent fractures; Redundant skin; Scoliosis; Severe short stature; Thin skin; Tibial bowing; Vertebral compression fractures; Wormian bones
HCCSXp22.2100%gene with protein product300056MLSAbnormal cardiac septum morphology; Abnormal facial shape; Abnormal morphology of the nasolacrimal system; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the eyelashes; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Anteriorly placed anus; Arrhythmia; Asymmetric, linear skin defects; Atrial septal defect; Cataract; Chordee; Clitoral hypertrophy; Colpocephaly; Congenital diaphragmatic hernia; Dermal atrophy; Dilated cardiomyopathy; Erythema; Hearing impairment; Histiocytoid cardiomyopathy; Hydrocephalus; Hyperpigmentation of the skin; Hypertrophic cardiomyopathy; Hypopigmented skin patches; Hypoplasia of the uterus; Hypospadias; Iris coloboma; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Overriding aorta; Ovotestis; Pigmentary retinopathy; Retrognathia; Sclerocornea; Seizures; Severe short stature; Short stature; Ventricular septal defect; Vitritis; Wide nasal bridge; Wide nose; X-linked dominant inheritanceDisorders of Sex Development
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
HSPA95q31.299.99%gene with protein product600548HSPA9BAgenesis of corpus callosum; Atopic dermatitis; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Coronal cleft vertebrae; Dysplasia of the femoral head; Epiphyseal dysplasia; High palate; Highly arched eyebrow; Hypodontia; Midface retrusion; Oligohydramnios; Patent foramen ovale; Recurrent urinary tract infections; Renal hypoplasia; Severe short stature; Short neck; Short nose; Sideroblastic anemia; Sparse hair
IDSXq2899.74%gene with protein product300823SIDSAbnormal heart valve morphology; Abnormality of retinal pigmentation; Asthma; Cervical cord compression; Coarse facial features; Congestive heart failure; Delayed eruption of teeth; Dermatan sulfate excretion in urine; Diarrhea; Dysostosis multiplex; Flexion contracture; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hoarse voice; Hydrocephalus; Hypertrichosis; Inguinal hernia; Intellectual disability, profound; Intestinal pseudo-obstruction; Kyphosis; Macrocephaly; Macroglossia; Mild short stature; Neurodegeneration; Obstructive sleep apnea; Papilledema; Pes cavus; Ptosis; Recurrent otitis media; Scaphocephaly; Seizures; Severe short stature; Short neck; Short stature; Splenomegaly; Split hand; Thick lower lip vermilion; Tracheobronchomalacia; Umbilical hernia; Widely spaced teeth; X-linked recessive inheritance
INPP5K17p13.399.99%gene with protein product607875Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of finger; Abnormality of the cerebellar vermis; Abnormality of the metacarpal bones; Aplasia/Hypoplasia involving the skeletal musculature; Ataxia; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Brachydactyly; Cataract; Cerebellar hypoplasia; Coxa valga; Dysarthria; Dyskinesia; Dysphonia; Elevated serum creatine phosphokinase; External genital hypoplasia; Generalized hypotonia; Global developmental delay; Gowers sign; Hip dislocation; Hip dysplasia; Hyperlordosis; Hypogonadism; Increased adipose tissue; Intellectual disability; Metatarsus valgus; Motor delay; Muscle flaccidity; Muscle stiffness; Muscular dystrophy; Muscular hypotonia; Myopathy; Nystagmus; Pectus carinatum; Progressive; Rigidity; Scoliosis; Severe short stature; Short palm; Short stature; Skeletal muscle atrophy; Spasticity; Specific learning disability; Spinal rigidity; Strabismus; Toe walking
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
KAT6B10q22.299.98%gene with protein product605880MYST4Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the antihelix; Abnormality of the cheek; Abnormality of the spleen; Agenesis of corpus callosum; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Arthrogryposis multiplex congenita; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bilateral single transverse palmar creases; Blepharophimosis; Brachydactyly; Bulbous nose; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Coarse facial features; Coarse hair; Colpocephaly; Congenital hip dislocation; Cryptorchidism; Cystic hygroma; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Downslanted palpebral fissures; Dysarthria; Dysphagia; Ectopic thyroid; Enlarged labia minora; Enlarged thorax; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatomegaly; High forehead; High palate; Hip contracture; Hydronephrosis; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplastic ilia; Hypoplastic inferior pubic rami; Hypoplastic ischia; Hypothyroidism; Intellectual disability; Intellectual disability, progressive; Joint hyperflexibility; Knee flexion contracture; Laryngomalacia; Long nose; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micropenis; Midface retrusion; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Patellar aplasia; Patellar dislocation; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Periventricular gray matter heterotopia; Polyhydramnios; Posteriorly rotated ears; Prominent nasal bridge; Prominent nose; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonary hypoplasia; Recurrent respiratory infections; Retrognathia; Scoliosis; Scrotal hypoplasia; Seizures; Severe short stature; Short palm; Short palpebral fissure; Short phalanx of finger; Short stature; Sloping forehead; Sparse scalp hair; Specific learning disability; Strabismus; Submucous cleft hard palate; Talipes equinovarus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Thyroid agenesis; Thyroid hypoplasia; Triangular face; Ventricular septal defect; Webbed neck; Wide intermamillary distance; Wide noseDisorders of Sex Development; Ectodermal Dysplasia
LARP74q2599.95%gene with protein product612026Autosomal recessive inheritance; Decreased body weight; Deeply set eye; Depressed nasal bridge; Global developmental delay; Intellectual disability, severe; Low-set ears; Malar flattening; Microcephaly; Scoliosis; Severe short stature; Short philtrum; Thick vermilion border; Wide mouth; Wide nasal bridge; Wide nose
LTBP311q13.1100%gene with protein product602090LTBP2Abnormal eyebrow morphology; Amelogenesis imperfecta; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Bulbous nose; Decreased nerve conduction velocity; Delayed skeletal maturation; Herniation of intervertebral nuclei; Hypertrichosis; Increased bone mineral density; Intervertebral space narrowing; Long eyelashes; Long philtrum; Microdontia; Mitral valve prolapse; Narrow mouth; Narrow vertebral interpedicular distance; Oligodontia; Platyspondyly; Round face; Selective tooth agenesis; Severe short stature; Short nose; Short palm; Short stature; Small hand; Thick lower lip vermilion; Widely spaced teethEctodermal Dysplasia
MAP3K76q15100%gene with protein product602614TAK1Abnormal form of the vertebral bodies; Abnormality of dental morphology; Abnormality of the dentition; Abnormality of the metaphysis; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Anteverted nares; Autosomal dominant inheritance; Bicuspid aortic valve; Bowing of the long bones; Brachydactyly; Broad nasal tip; Camptodactyly; Camptodactyly of finger; Carpal synostosis; Conductive hearing impairment; Cone-shaped epiphysis; Congenital hip dislocation; Congenital sensorineural hearing impairment; Craniofacial hyperostosis; Decreased testicular size; Deep philtrum; Delayed skeletal maturation; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Failure of eruption of permanent teeth; Failure to thrive; Freckling; Full cheeks; Fused cervical vertebrae; Gastroesophageal reflux; High palate; High, narrow palate; Hip contracture; Hypertelorism; Hypoplasia of the musculature; Irregular metacarpals; Joint laxity; Joint stiffness; Long fingers; Long metacarpals; Long philtrum; Micrognathia; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Patent ductus arteriosus; Patent foramen ovale; Pointed chin; Posterior vertebral hypoplasia; Posteriorly rotated ears; Prominent supraorbital ridges; Pseudoepiphyses; Pulmonic stenosis; Recurrent otitis media; Reduced number of teeth; Rib fusion; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short foot; Short metacarpal; Short metatarsal; Short palm; Short philtrum; Short stature; Strabismus; Subglottic stenosis; Synostosis of carpal bones; Talipes equinovarus; Tarsal synostosis; Telecanthus; Thick eyebrow; Tracheal stenosis; Ulnar deviation of finger; Ulnar deviation of the hand; Upslanted palpebral fissure; Vesicoureteral reflux; Wide nasal bridge
MESP215q26.199.59%gene with protein product605195Abnormal form of the vertebral bodies; Abnormality of immune system physiology; Abnormality of the intervertebral disk; Abnormality of the odontoid process; Autosomal recessive inheritance; Block vertebrae; Death in infancy; Disproportionate short-trunk short stature; Hemivertebrae; Intrauterine growth retardation; Kyphosis; Recurrent respiratory infections; Respiratory insufficiency; Rib fusion; Rib segmentation abnormalities; Scoliosis; Severe short stature; Short neck; Short stature; Short thorax; Vertebral segmentation defect
NDUFB11Xp11.399.85%gene with protein product300403Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal morphology of the nasolacrimal system; Abnormality of retinal pigmentation; Abnormality of the eyelashes; Agenesis of corpus callosum; Anophthalmia; Arrhythmia; Cardiac arrest; Congenital diaphragmatic hernia; Dermal atrophy; Dilated cardiomyopathy; Dilation of lateral ventricles; Erythema; Failure to thrive; Hyperpigmentation of the skin; Hypertrophic cardiomyopathy; Hypopigmented skin patches; Lacrimal duct atresia; Mandibular aplasia; Micrognathia; Microphthalmia; Midface retrusion; Muscular hypotonia of the trunk; Myopia; Nystagmus; Retrognathia; Sclerocornea; Seizures; Severe short stature; Strabismus; Ventricular fibrillation; Ventricular tachycardia; Vitritis; Wide nasal bridge; Wide nose; X-linked dominant inheritance
NIN14q22.197.5%gene with protein product608684Autosomal recessive inheritance; Central hypothyroidism; Delayed skeletal maturation; Hip dysplasia; Hypoplasia of the uterus; Hypotelorism; Intellectual disability, severe; Intrauterine growth retardation; Lumbar scoliosis; Madelung deformity; Microcephaly; Microtia; Primary amenorrhea; Prominent nose; Seizures; Severe global developmental delay; Severe short stature
ORC11p32.3100%gene with protein product601902ORC1LAbnormality of epiphysis morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the ribs; Absent glenoid fossa; 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; Blepharophimosis; Breast hypoplasia; Breech presentation; Camptodactyly; Camptodactyly of finger; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Craniosynostosis; Cryptorchidism; Cutaneous finger syndactyly; Delayed skeletal maturation; Elbow dislocation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat glenoid fossa; Frontal bossing; Gastroesophageal reflux; Genu valgum; Genu varum; Hearing impairment; Hemivertebrae; Heterogeneous; High palate; High, narrow palate; Hyperconvex nail; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Incomplete partition of the cochlea type II; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Joint laxity; Lateral clavicle hook; Long eyelashes; Low-set ears; Mandibular aplasia; Microcephaly; Microdontia; Micrognathia; Micropenis; Microtia; Microtia, third degree; Narrow mouth; Patellar aplasia; Pectus carinatum; Posteriorly rotated ears; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Shawl scrotum; Short palm; Short palpebral fissure; Short ribs; Slender long bone; Small anterior fontanelle; Small for gestational age; Small hand; Strabismus; Talipes equinovarus; Thick lower lip vermilion; Thin ribs; Thin skin
ORC42q23.199.23%gene with protein product603056ORC4LAbnormality of epiphysis morphology; Abnormality of the ribs; Anotia; 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; Craniosynostosis; Cryptorchidism; Delayed skeletal maturation; Dolichocephaly; Failure to thrive; Feeding difficulties; Gastroesophageal reflux; High pitched voice; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Microtia; Microtia, third degree; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Respiratory distress; Respiratory failure; Retrognathia; Severe short stature; Slender long bone; Smooth philtrum; Tracheomalacia; Underdeveloped nasal alae
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
PCYT1A3q2999.99%gene with protein product123695PCYT1Abnormal electroretinogram; Abnormality of color vision; Abnormality of macular pigmentation; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the ribs; Aplasia/Hypoplasia of the cerebellar vermis; Astigmatism; Autosomal recessive inheritance; Bowing of the long bones; Brachydactyly; Cataract; Cone/cone-rod dystrophy; Coxa vara; Cupped ribs; Decreased hip abduction; Dental malocclusion; Encephalocele; Femoral bowing; Hemiplegia/hemiparesis; High hypermetropia; Hyperlordosis; Hypoplastic inferior ilia; Iris hypopigmentation; Joint stiffness; Keratoconus; Large central visual field defect; Metaphyseal cupping; Metaphyseal irregularity; Metaphyseal widening; Muscular hypotonia; Myopia; Narrow greater sacrosciatic notches; Nyctalopia; Nystagmus; Ovoid vertebral bodies; Peripheral visual field loss; Photophobia; Platyspondyly; Postnatal growth retardation; Progressive visual loss; Recurrent otitis media; Rhizomelia; Scoliosis; Seizures; Severe platyspondyly; Severe short stature; Severe visual impairment; Short finger; Short metacarpal; Spondylometaphyseal dysplasia; Tibial bowing; Visual loss
PEX76q23.3100%gene with protein product601757Abnormal pyramidal signs; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Alopecia; Anosmia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Calcific stippling of infantile cartilaginous skeleton; Cardiomegaly; Cardiomyopathy; Cataract; Cerebral cortical atrophy; Cleft palate; Congenital cataract; Congestive heart failure; Coronal cleft vertebrae; Delayed CNS myelination; Depressed nasal bridge; Developmental regression; Dry skin; Elevated levels of phytanic acid; Epiphyseal stippling; Flared metaphysis; Flat face; Flexion contracture; Frontal bossing; Hammertoe; Hemiplegia/hemiparesis; Hyporeflexia; Ichthyosis; Increased CSF protein; Intellectual disability; Intellectual disability, severe; Kyphoscoliosis; Limb muscle weakness; Malar flattening; Microcephaly; Micrognathia; Miosis; Multiple epiphyseal dysplasia; Muscular hypotonia; Nail dysplasia; Nyctalopia; Nystagmus; Peripheral neuropathy; Pes cavus; Ptosis; Respiratory insufficiency; Retinal degeneration; Retinopathy; Rhizomelia; Rod-cone dystrophy; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory impairment; Severe failure to thrive; Severe short stature; Short fourth metatarsal; Short metacarpal; Skeletal dysplasia; Skeletal muscle atrophy; Spasticity; Splenomegaly; Upslanted palpebral fissure; Visual impairmentPalmoplantar keratoderma plus congenital ichthyosis
PIEZO218p11.22-p1199.81%gene with protein product613629FAM38B2, C18orf30, C18orf58, FAM38BAbnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the rib cage; Abnormality of the sternum; Absent palmar crease; Absent phalangeal crease; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia involving the skeletal musculature; Arachnodactyly; Areflexia; Arthrogryposis multiplex congenita; Astigmatism; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bilateral talipes equinovarus; Blepharophimosis; Broad-based gait; Camptodactyly; Camptodactyly of finger; Camptodactyly of toe; Cerebellar hypoplasia; Cleft palate; Clinodactyly; Congenital contracture; Congenital finger flexion contractures; Congenital hip dislocation; Cryptorchidism; Cutaneous finger syndactyly; Dandy-Walker malformation; Decreased facial expression; Decreased hip abduction; Decreased muscle mass; Decreased palmar creases; Deeply set eye; Deviation of finger; Dextrocardia; Dimple chin; Distal arthrogryposis; Down-sloping shoulders; Duane anomaly; Dysarthria; Epicanthus; Facial asymmetry; Failure to thrive; Feeding difficulties; Firm muscles; Fixed facial expression; Generalized hypotonia; Global developmental delay; High palate; High, narrow palate; Hip dysplasia; Hypertelorism; Hypoplasia of the brainstem; Hypospadias; Inability to walk; Inferior vermis hypoplasia; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Joint stiffness; Keratoconus; Keratoglobus; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limited wrist extension; Long nose; Long philtrum; Low-set ears; Lumbar hyperlordosis; Macrotia; Mask-like facies; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Motor delay; Muscular dystrophy; Muscular hypotonia; Myopathic facies; Narrow mouth; Ophthalmoplegia; Optic atrophy; Overlapping toe; Pectus carinatum; Pectus excavatum; Pes planus; Poor head control; Posteriorly rotated ears; Postnatal growth retardation; Primitive reflex; Progressive; Protruding ear; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Radioulnar synostosis; Renal hypoplasia; Respiratory insufficiency; Restrictive ventilatory defect; Retrognathia; Scoliosis; Seizures; Sensory ataxia; Sensory axonal neuropathy; Severe short stature; Short neck; Short palpebral fissure; Short phalanx of finger; Short stature; Single transverse palmar crease; Skeletal muscle atrophy; Specific learning disability; Strabismus; Submucous cleft hard palate; Talipes; Talipes equinovarus; Thin upper lip vermilion; Thoracolumbar scoliosis; Triangular face; Ulnar deviation of the hand or of fingers of the hand; Visual impairment; Wide anterior fontanel; Wide nasal bridge; Zollinger-Ellison syndrome
PIK3R15q13.199.16%gene with protein product171833Abnormal pupil morphology; Abnormality of dental enamel; Abnormality of the immune system; Agammaglobulinemia; Alopecia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Birth length less than 3rd percentile; Cataract; Chronic otitis media; Clinodactyly; Conjunctivitis; Cough; Decreased antibody level in blood; Deeply set eye; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Dental malocclusion; Diabetes mellitus; Diarrhea; Dimple chin; Downturned corners of mouth; Enlarged epiphyses; Excessive wrinkled skin; Failure to thrive; Fatigue; Fever; Frontal bossing; Glaucoma; Glucose intolerance; Hyperglycemia; Hypodontia; Hypoplasia of the iris; Hypotrichosis; Immunodeficiency; Infantile onset; Inguinal hernia; Insulin resistance; Insulin-resistant diabetes mellitus; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Lipoatrophy; Lipodystrophy; Macrotia; Megalocornea; Microdontia; Micrognathia; Midface retrusion; Myopia; Neurological speech impairment; Neutropenia; Osteomyelitis; Poor appetite; Premature skin wrinkling; Prominent forehead; Radial deviation of finger; Recurrent bacterial infections; Recurrent respiratory infections; Recurrent skin infections; Rieger anomaly; Sensorineural hearing impairment; Severe short stature; Sinusitis; Skin rash; Small for gestational age; Telecanthus; Thin skin; Triangular face; Underdeveloped nasal alae; Weight loss; Wide nasal bridgeAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
PNPLA619p13.299.99%gene with protein product603197Abnormal electroretinogram; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the antitragus; Abnormality of the hand; Abnormality of the hypothalamus-pituitary axis; Areflexia; Ataxia; Atrophy of the spinal cord; Autosomal recessive inheritance; Babinski sign; Central heterochromia; Cerebellar atrophy; Chorioretinal dystrophy; Cryptorchidism; Decreased fertility; Delayed puberty; Distal amyotrophy; Distal lower limb muscle weakness; Distal muscle weakness; Finger syndactyly; Gait disturbance; Growth hormone deficiency; Gynecomastia; Hand polydactyly; Hemiplegia/hemiparesis; Hyperreflexia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hyporeflexia; Intellectual disability; Intention tremor; Juvenile onset; Long eyebrows; Long eyelashes; Micropenis; Muscular hypotonia; Neurological speech impairment; Nystagmus; Obesity; Optic atrophy; Peripheral axonal neuropathy; Phenotypic variability; Photophobia; Pigmentary retinopathy; Progressive; Progressive spastic paraplegia; Progressive visual loss; Renal insufficiency; Retinal dystrophy; Scanning speech; Scrotal hypoplasia; Sensorineural hearing impairment; Severe short stature; Short stature; Small for gestational age; Spastic paraplegia; Spinocerebellar atrophyObesity
PTDSS18q22.199.94%gene with protein product612792Abnormal cortical bone morphology; Abnormal morphology of the nasolacrimal system; Abnormality of dental enamel; Abnormality of the dentition; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Agenesis of corpus callosum; Anteriorly placed anus; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the skin; Aplastic clavicles; Autosomal dominant inheritance; Brachydactyly; Broad clavicles; Broad forehead; Broad ribs; Choanal atresia; Choanal stenosis; Chordee; Cryptorchidism; Cutis laxa; Cutis marmorata; Delayed cranial suture closure; Delayed skeletal maturation; Diaphyseal thickening; Elbow ankylosis; Elbow flexion contracture; Epispadias; Facial hyperostosis; Facial palsy; Failure to thrive; Femoral hernia; Finger syndactyly; Flared metaphysis; Frontal bossing; Generalized hypotonia; Global developmental delay; Humeroradial synostosis; Hyperextensibility of the finger joints; Hypertelorism; Hypospadias; Inguinal hernia; Intellectual disability; Intellectual disability, moderate; Intrauterine growth retardation; Joint hyperflexibility; Knee flexion contracture; Lacrimal duct stenosis; Large fontanelles; Macrocephaly; Macrotia; Mandibular prognathia; Microglossia; Micrognathia; Osteopetrosis; Prematurely aged appearance; Progressive sclerosis of skull base; Prominent forehead; Prominent scalp veins; Proximal symphalangism of hands; Redundant skin; Relative macrocephaly; Sensorineural hearing impairment; Severe short stature; Short palm; Short stature; Sparse hair; Specific learning disability; Sporadic; Symphalangism affecting the phalanges of the hand; Syndactyly; Thick vermilion border; Thickened calvaria; Thin skin; Wide mouth
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
PYCR117q25.399.99%gene with protein product179035Agenesis of corpus callosum; Autosomal recessive inheritance; Beaking of vertebral bodies; Biconcave vertebral bodies; Blepharophimosis; Blue sclerae; Bowing of the long bones; Broad forehead; Congenital glaucoma; Congenital hip dislocation; Cryptorchidism; Cutis laxa; Deeply set eye; Delayed speech and language development; Dermal translucency; Downslanted palpebral fissures; Elbow flexion contracture; Excessive wrinkled skin; Failure to thrive; Fine hair; Frontal bossing; Gastroesophageal reflux; Global developmental delay; Hip dislocation; Hydrocephalus; Hyperextensible skin; Hypertelorism; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Large fontanelles; Malar flattening; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow nasal ridge; Osteopenia; Osteoporosis; Posteriorly rotated ears; Prominent forehead; Prominent superficial veins; Protruding ear; Recurrent fractures; Redundant skin; Scoliosis; Severe short stature; Sparse hair; Thin skin; Thin vermilion border; Triangular face; Vertebral compression fractures
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
RNU4ATAC2q14.2RNA, small nuclearXomeDxSlice is not appropriate.60142811 pairs of ribs; Abnormal form of the vertebral bodies; Abnormal vertebral ossification; Abnormality of calcium-phosphate metabolism; Abnormality of retinal pigmentation; Abnormality of the intervertebral disk; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the tragus; Absence seizures; Absent knee epiphyses; Agenesis of cerebellar vermis; Agenesis of corpus callosum; Alopecia; Aplasia/hypoplasia of the femur; Aplastic clavicles; Arthralgia; Atrial septal defect; Autosomal recessive inheritance; Biconvex vertebral bodies; Bifid femur; Bifid uvula; Bilateral single transverse palmar creases; Bowed humerus; Brachydactyly; Broad distal phalanx of finger; Bulbous nose; Cleft vertebral arch; Clinodactyly of the 5th finger; Coarctation of aorta; Coxa vara; Cryptorchidism; Delayed skeletal maturation; Disproportionate short stature; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Dry skin; Dyspnea; Elbow dislocation; Elbow flexion contracture; Enlarged metaphyses; Eosinophilia; Epileptic spasms; Epiphyseal dysplasia; Failure to thrive; Femoral bowing; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatomegaly; Heterotopia; Hip contracture; Hip dislocation; Hydronephrosis; Hydroureter; Hyperkeratosis; Hypoplasia of the frontal lobes; Hypoplastic ilia; Hypotrichosis; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Irregular epiphyses; Irregular femoral epiphysis; Irregular vertebral endplates; Knee flexion contracture; Large hands; Large iliac wings; Long clavicles; Long foot; Long nose; Long palpebral fissure; Loss of eyelashes; Low-set ears; Lymphadenopathy; Malar flattening; Microcephaly; Micrognathia; Micromelia; Micropenis; Microtia; Muscle stiffness; Nystagmus; Oligohydramnios; Osteomalacia; Osteopenia; Osteoporosis; Pachygyria; Platyspondyly; Posteriorly rotated ears; Premature birth; Prolonged neonatal jaundice; Prominent nose; Prominent occiput; Proptosis; Recurrent otitis media; Recurrent pneumonia; Renal cyst; Renal hypoplasia; Respiratory failure; Retrognathia; Rickets; Rigidity; Seizures; Severe short stature; Short femur; Short humerus; Short metacarpal; Short neck; Short palm; Short stature; Short toe; Shoulder flexion contracture; Single transverse palmar crease; Sloping forehead; Small anterior fontanelle; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Spasticity; Specific learning disability; Splenomegaly; Spondyloepiphyseal dysplasia; Status epilepticus; Stillbirth; Submucous cleft hard palate; Tetralogy of Fallot; Thick vermilion border; Thickened nuchal skin fold; Thin eyebrow; Underdeveloped nasal alae
SALL420q13.2100%gene with protein product607343Abnormal dermatoglyphics; Abnormality of the nasopharynx; Absent radius; Absent thumb; Aganglionic megacolon; Anal atresia; Anal stenosis; Aplasia of metacarpal bones; Atrial septal defect; Autosomal dominant inheritance; Bladder diverticulum; Broad hallux phalanx; Carpal bone hypoplasia; Carpal synostosis; Cataract; Choanal atresia; Choanal stenosis; Conductive hearing impairment; Congenital strabismus; Crossed fused renal ectopia; Duane anomaly; Epicanthus; External ophthalmoplegia; Facial asymmetry; Facial palsy; Fused cervical vertebrae; Hearing impairment; Horseshoe kidney; Hydronephrosis; Hypertelorism; Hypoplasia of deltoid muscle; Hypoplasia of the radius; Hypoplasia of the ulna; Impaired convergence; Impaired ocular abduction; Impaired ocular adduction; Intestinal malrotation; Iris coloboma; Joint stiffness; Leukocytosis; Limited elbow movement; Limited interphalangeal movement; Limited wrist movement; Microphthalmia; Optic disc hypoplasia; Optic nerve coloboma; Palpebral fissure narrowing on adduction; Pectoralis hypoplasia; Pectoralis major hypoplasia; Pes planus; Phenotypic variability; Preaxial hand polydactyly; Preaxial polydactyly; Radial club hand; Radial deviation of the hand; Radioulnar synostosis; Rectovaginal fistula; Renal agenesis; Renal hypoplasia; Renal hypoplasia/aplasia; Renal malrotation; Retinal coloboma; Sandal gap; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short 1st metacarpal; Short distal phalanx of the thumb; Short hallux; Short humerus; Short palpebral fissure; Short thumb; Small thenar eminence; Spina bifida occulta; Strabismus; Syndactyly; Synostosis of carpal bones; Thrombocytopenia; Triphalangeal thumb; Upper limb muscle hypoplasia; Ventricular septal defect; Vesicoureteral reflux; Visual impairmentVACTERL Association
SHOXXp22.33 and 100%gene with protein product312865, 400020Abnormality of calvarial morphology; Abnormality of epiphysis morphology; Abnormality of femur morphology; Abnormality of the carpal bones; Abnormality of the hip bone; Abnormality of the humerus; Abnormality of the metaphysis; Abnormality of the ulna; Aplasia/Hypoplasia of the fibula; Aplastic/hypoplastic toenail; Bowing of the long bones; Brachydactyly; Clinodactyly of the 5th finger; Cone-shaped epiphysis; Cubitus valgus; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dorsal subluxation of ulna; Elbow dislocation; Episodic ketoacidosis; Exostoses; Forearm undergrowth; Genu valgum; Genu varum; High palate; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic fingernail; Joint stiffness; Limited wrist movement; Lower limb undergrowth; Madelung deformity; Mesomelia; Mesomelic/rhizomelic limb shortening; Micrognathia; Micromelia; Obesity; Patellar aplasia; Radial bowing; Scoliosis; Severe short stature; Short femoral neck; Short foot; Short neck; Short stature; Short tibia; Skeletal muscle hypertrophy; Tibial bowing; Ulnar bowing; Ulnar deviation of finger; Ulnar radial head dislocation; Wide nasal bridge
SIL15q31.2100%gene with protein product608005MSSAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of finger; Abnormality of the cerebellar vermis; Abnormality of the metacarpal bones; Aplasia/Hypoplasia involving the skeletal musculature; Ataxia; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Brachydactyly; Cataract; Centrally nucleated skeletal muscle fibers; Cerebellar cortical atrophy; Cerebellar hypoplasia; Congenital cataract; Coxa valga; Cubitus valgus; Dysarthria; Dyskinesia; Dysphonia; Elevated serum creatine phosphokinase; External genital hypoplasia; Failure to thrive; Flexion contracture; Gait ataxia; Generalized hypotonia; Global developmental delay; Hip dislocation; Hip dysplasia; Hypergonadotropic hypogonadism; Hypogonadism; Infantile onset; Intellectual disability; Kyphosis; Limb ataxia; Metatarsus valgus; Microcephaly; Muscle flaccidity; Muscle stiffness; Muscular dystrophy; Muscular hypotonia; Myopathy; Nystagmus; Pectus carinatum; Pes planus; Progressive muscle weakness; Rigidity; Scoliosis; Severe short stature; Short metacarpal; Short metatarsal; Short palm; Short stature; Skeletal muscle atrophy; Spasticity; Specific learning disability; StrabismusRhabdomyolysis
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
SMAD418q21.2100%gene with protein product600993MADH42-3 toe syndactyly; Abdominal pain; Abnormal cardiac septum morphology; Abnormality of epiphysis morphology; Abnormality of the metaphysis; Abnormality of the pubic bone; Abnormality of the ribs; Abnormality of the voice; Anemia; Anorexia; Aortic valve stenosis; Autism; Autosomal dominant inheritance; Back pain; Blepharophimosis; Brachydactyly; Broad ribs; Camptodactyly; Cavernous hemangioma; Cholecystitis; Chronic fatigue; Clinodactyly; Coarctation of aorta; Cone-shaped epiphysis; Craniofacial hyperostosis; Cryptorchidism; Deeply set eye; EMG abnormality; Enlarged vertebral pedicles; Epistaxis; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Failure to thrive; Fine hair; Functional intestinal obstruction; Generalized muscle hypertrophy; Global developmental delay; Hamartomatous polyposis; Hearing impairment; Hematochezia; High hypermetropia; Hypermetropia; Hypertelorism; Hypertension; Hypoalbuminemia; Hypokalemia; Hypoplasia of the maxilla; Hypoplastic iliac wing; Increased level of L-fucose in urine; Intellectual disability; Intestinal pseudo-obstruction; Intrauterine growth retardation; Jaundice; Joint stiffness; Large iliac wings; Laryngotracheal stenosis; Limitation of joint mobility; Low-set ears; Lymphadenopathy; Malar flattening; Mandibular prognathia; Microcephaly; Microcytic anemia; Microtia; Midface retrusion; Migraine; Multiple gastric polyps; Narrow mouth; Neoplasm of the pancreas; Overlapping toe; Pancreatic adenocarcinoma; Patent ductus arteriosus; Pericardial effusion; Platyspondyly; Poor appetite; Portal hypertension; Prominent nasal bridge; Ptosis; Radial deviation of finger; Seizures; Severe short stature; Short finger; Short long bone; Short neck; Short palm; Short palpebral fissure; Short philtrum; Short stature; Short toe; Skeletal muscle hypertrophy; Somatic mutation; Sparse hair; Specific learning disability; Spontaneous hematomas; Stiff skin; Strabismus; Telangiectasia of the skin; Thick eyebrow; Thickened calvaria; Thickened skin; Thin upper lip vermilion; Thin vermilion border; Vertebral fusion; Visceral angiomatosis; Weight loss
SMARCA29p24.398.93%gene with protein product600014SNF2L2Abnormal hair pattern; Abnormality of the metacarpal bones; Absence seizures; Absent eyebrow; Absent speech; Aggressive behavior; Alopecia; Anteverted nares; Aphasia; Autosomal dominant inheritance; Blepharophimosis; Brachydactyly; Broad distal phalanx of finger; Broad philtrum; Clubbing of toes; Cryptorchidism; Curly eyelashes; Dysphasia; Echolalia; Eczema; Epileptic spasms; Everted lower lip vermilion; Excessive wrinkled skin; Failure to thrive; Global developmental delay; High, narrow palate; Highly arched eyebrow; Hypotrichosis; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint dislocation; Long eyelashes; Long philtrum; Low anterior hairline; Microcephaly; Mutism; Narrow nasal bridge; Poor speech; Prominent interphalangeal joints; Sandal gap; Scoliosis; Seizures; Severe short stature; Short metacarpal; Short metatarsal; Short palm; Short palpebral fissure; Short phalanx of finger; Smooth philtrum; Sparse scalp hair; Specific learning disability; Status epilepticus; Thick lower lip vermilion; Thick nasal alae; Thin vermilion border; Triangular face; Wide intermamillary distance; Wide mouth; Wide nasal base
STAT5B17q21.299.98%gene with protein product604260Growth hormone deficiency; Respiratory distress; Severe short statureAutoimmune Disorders
TBX616p11.2100%gene with protein product602427Anteverted nares; Autosomal dominant inheritance; Autosomal recessive inheritance; Butterfly vertebrae; Disproportionate short-trunk short stature; Hemivertebrae; Hyperlordosis; Intrauterine growth retardation; Low back pain; Missing ribs; Posterior rib fusion; Prominent occiput; Scoliosis; Severe short stature; Short neck; Short thorax; Supernumerary ribs; Upslanted palpebral fissure; Vertebral fusion; Vertebral segmentation defect; Wide nasal bridge
TBX616p11.2100%gene with protein product602427Anteverted nares; Autosomal dominant inheritance; Autosomal recessive inheritance; Butterfly vertebrae; Disproportionate short-trunk short stature; Hemivertebrae; Hyperlordosis; Intrauterine growth retardation; Low back pain; Missing ribs; Posterior rib fusion; Prominent occiput; Scoliosis; Severe short stature; Short neck; Short thorax; Supernumerary ribs; Upslanted palpebral fissure; Vertebral fusion; Vertebral segmentation defect; Wide nasal bridge
TCTN310q24.1100%gene with protein product613847C10orf61Abnormal oral frenulum morphology; Abnormality of eye movement; Abnormality of the gingiva; Abnormality of the tongue; Absent testis; Accessory oral frenulum; Aplasia/Hypoplasia of the tibia; Autosomal recessive inheritance; Bifid uvula; Brachydactyly; Camptodactyly; Camptodactyly of finger; Cerebral atrophy; Cerebral cortical hemiatrophy; Choanal atresia; Cleft palate; Clinodactyly; Conductive hearing impairment; Decreased testicular size; Depressed nasal ridge; Epicanthus; Failure to thrive; Feeding difficulties; Finger syndactyly; Foot polydactyly; Genu varum; Global developmental delay; Hamartoma; Hamartoma of tongue; Hand polydactyly; High palate; High, narrow palate; Horseshoe kidney; Hypertelorism; Intellectual disability; Intrauterine growth retardation; Joint dislocation; Joint laxity; Kyphoscoliosis; Laryngomalacia; Lobulated tongue; Low-set ears; Median cleft lip; Microcephaly; Micrognathia; Micromelia; Microtia, third degree; Molar tooth sign on MRI; Monorchism; Oligohydramnios; Oral synechia; Pectus excavatum; Phenotypic variability; Polydactyly; Porencephalic cyst; Postaxial hand polydactyly; Posteriorly rotated ears; Preaxial hand polydactyly; Proptosis; Recurrent respiratory infections; Retrognathia; Severe short stature; Short finger; Short nose; Short stature; Short tibia; Specific learning disability; Split hand; Subcortical cerebral atrophy; Submucous cleft hard palate; Toe syndactyly; Tongue nodules; Ventricular septal defect; Wide noseDisorders of Sex Development; Heterotaxy ; Short-Rib Thoracic Dysplasia
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
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
WNT5A3p14.3100%gene with protein product164975Anteverted nares; Autosomal dominant inheritance; Bifid distal phalanx of toe; Bifid tongue; Brachydactyly; Broad thumb; Broad toe; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypoplasia; Cryptorchidism; Curly eyelashes; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Duplication of the distal phalanx of hand; Epicanthus; Euryblepharon; Flat face; Frontal bossing; Gingival overgrowth; Global developmental delay; Hemivertebrae; High, narrow palate; Hydronephrosis; Hypertelorism; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic labia minora; Inguinal hernia; Intellectual disability; Long eyelashes; Long palpebral fissure; Long philtrum; Macrocephaly; Macroglossia; Malar flattening; Median cleft lip and palate; Mesomelia; Micrognathia; Micromelia; Micropenis; Midface retrusion; Nevus flammeus; Open bite; Pectus excavatum; Posteriorly rotated ears; Prominent forehead; Proptosis; Radial deviation of finger; Renal duplication; Retrognathia; Right ventricular outlet obstruction; Severe short stature; Short hard palate; Short middle phalanx of the 5th finger; Short nose; Short palm; Thin upper lip vermilion; Triangular mouth; Umbilical hernia; Upslanted palpebral fissure; Wide anterior fontanel; Wide nasal bridge; Wide noseDisorders of Sex Development
XYLT116p12.3100%gene with protein product608124Abnormality of the eyelashes; Abnormality of the metaphysis; Accelerated skeletal maturation; Advanced ossification of carpal bones; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Autosomal recessive inheritance; Bell-shaped thorax; Blue sclerae; Camptodactyly of finger; Clinodactyly of the 5th finger; Coxa valga; Coxa vara; Depressed nasal bridge; Disproportionate short-limb short stature; Elbow dislocation; Epiphyseal dysplasia; Flat face; Genu recurvatum; Glaucoma; Hypotrichosis; Intellectual disability; Joint hyperflexibility; Joint laxity; Long philtrum; Low-set, posteriorly rotated ears; Metaphyseal widening; Patellar dislocation; Proptosis; Radioulnar synostosis; Relative macrocephaly; Round face; Scoliosis; Severe short stature; Short clavicles; Short long bone; Short metacarpal; Short neck; Short phalanx of finger; Short stature; Small hand; Ventricular septal defectMuscular dystropy-dystroglycanopathy (Walker-Warburg); Obesity


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome