XomeDxSlice Tool

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

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Phenotypes
Prominent forehead

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCC912p12.1100%gene with protein product601439Abnormality of the hand; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Anteverted nares; Autosomal dominant inheritance; Bicuspid aortic valve; Blepharophimosis; Broad first metatarsal; Broad hallux; Broad hallux phalanx; Broad ribs; Bulbous nose; Cardiomegaly; Coarse facial features; Congenital hypertrophy of left ventricle; Congenital, generalized hypertrichosis; Coxa valga; Craniofacial hyperostosis; Cuboid-shaped vertebral bodies; Curly eyelashes; Deep plantar creases; Delayed skeletal maturation; Depressed nasal bridge; Dilated cardiomyopathy; Epicanthus; Erlenmeyer flask deformity of the femurs; Everted lower lip vermilion; Furrowed tongue; Generalized hirsutism; Gingival overgrowth; Highly arched eyebrow; Hypertelorism; Hypoplastic ischiopubic rami; Intellectual disability, mild; Joint hyperflexibility; Large for gestational age; Large hands; Large sella turcica; Long eyelashes; Long nose; Long philtrum; Low anterior hairline; Low posterior hairline; Lymphedema; Macrocephaly; Macroglossia; Metaphyseal widening; Micrognathia; Narrow chest; Osteoporosis; Ovoid vertebral bodies; Palpebral edema; Paroxysmal atrial fibrillation; Patent ductus arteriosus; Pericardial effusion; Platyspondyly; Prominent forehead; Prominent supraorbital ridges; Short distal phalanx of finger; Short hallux; Short neck; Skeletal dysplasia; Sloping forehead; Synophrys; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Thick upper lip vermilion; Thick vermilion border; Thickened skin; Umbilical hernia; Wide mouth; Wide nasal bridge; Widened posterior fossa
ADNP20q13.13100%gene with protein product611386Autistic behavior; Autosomal dominant inheritance; Downslanted palpebral fissures; Eyelid coloboma; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypermetropia; Infantile onset; Intellectual disability; Joint laxity; Language impairment; Obesity; Obsessive-compulsive behavior; Prominent forehead; Ptosis; Recurrent infections; Short nose; Short stature; Small hand; Smooth philtrum; Stereotypy; Strabismus; Thin upper lip vermilion; Visual impairment; Wide nasal bridge
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
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
AMER1Xq11.2100%gene with protein product300647FAM123BAbnormality of the metaphysis; Apnea; Arachnodactyly; Atrial septal defect; Bifid uvula; Broad ribs; Camptodactyly; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Craniofacial osteosclerosis; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Epicanthus; Facial hyperostosis; Facial palsy; Failure to thrive; Fibular aplasia; Fibular hypoplasia; Flat occiput; Flexion contracture of toe; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; High iliac wings; High, narrow palate; Hydrocephalus; Hypertelorism; Intellectual disability, mild; Intestinal malrotation; Joint contracture of the hand; Large fontanelles; Large iliac wings; Laryngeal web; Low-set ears; Macrocephaly; Micrognathia; Microtia; Narrow forehead; Nasal speech; Natal tooth; Oligohydramnios; Osteopathia striata; Osteopetrosis; Overfolded helix; Paranasal sinus hypoplasia; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Pectus excavatum; Pierre-Robin sequence; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Rough bone trabeculation; Sclerosis of skull base; Scoliosis; Seizures; Short stature; Spina bifida occulta; Straight clavicles; Submucous cleft hard palate; Talipes equinovarus; Thick lower lip vermilion; Thickened calvaria; Thoracolumbar kyphosis; Tracheomalacia; Ventricular septal defect; Webbed neck; Wide intermamillary distance; Wide nasal bridge; X-linked dominant inheritance
APC219p13.399.99%gene with protein product612034Abnormality of immune system physiology; Accelerated skeletal maturation; Advanced eruption of teeth; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Conductive hearing impairment; Depressed nasal ridge; Dolichocephaly; Downslanted palpebral fissures; Feeding difficulties in infancy; Frontal bossing; Global developmental delay; High forehead; High palate; Hyperactivity; Hypertelorism; Hypoglycemia; Intellectual disability; Long face; Macrocephaly; Macrotia; Mandibular prognathia; Muscular hypotonia; Obesity; Poor speech; Precocious puberty; Prominent forehead; Prominent nose; Relative macrocephaly; Tall stature; Ventriculomegaly
ARNT215q25.199.99%gene with protein product606036Agenesis of corpus callosum; Anterior pituitary hypoplasia; Autosomal recessive inheritance; Cleft palate; Cryptorchidism; Deeply set eye; Delayed myelination; Diabetes insipidus; Gastroesophageal reflux; Global developmental delay; Growth hormone deficiency; Hemiplegia/hemiparesis; Hip dislocation; Hydronephrosis; Hypernatremia; Hypoplasia of penis; Hypoplasia of the corpus callosum; Microcephaly; Neurogenic bladder; Nystagmus; Pituitary hypothyroidism; Postnatal microcephaly; Prominent forehead; Retrognathia; Seizures; Septo-optic dysplasia; Short stature; Spasticity; Strabismus; Vesicoureteral reflux; Visual impairment
ASXL120q11.21100%gene with protein product612990Abnormal anterior chamber morphology; Abnormality of cardiovascular system morphology; Abnormality of the optic nerve; Abnormality of the pancreas; Accessory oral frenulum; Agenesis of corpus callosum; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Broad alveolar ridges; Broad palm; Camptodactyly; Camptodactyly of finger; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Convex nasal ridge; Dandy-Walker malformation; Death in infancy; Deep palmar crease; Deep plantar creases; Delayed peripheral myelination; Dislocated radial head; Elbow dislocation; Facial hemangioma; Failure to thrive; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Heterotopia; Hirsutism; Hyperechogenic pancreas; Hypertelorism; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability, profound; Intellectual disability, severe; Intestinal malrotation; Intrauterine growth retardation; Limitation of joint mobility; Long face; Low anterior hairline; Low-set ears; Mesomelic/rhizomelic limb shortening; Microcephaly; Micrognathia; Myelodysplasia; Myopia; Narrow chest; Narrow forehead; Narrow palate; Nevus flammeus; Nevus flammeus of the forehead; Overlapping toe; Platyspondyly; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Prominent metopic ridge; Proptosis; Retinopathy; Retrognathia; Sacral dimple; Seizures; Short thorax; Short toe; Somatic mutation; Strabismus; Supernumerary nipple; Syndactyly; Synophrys; Tapered finger; Thick hair; Trigonocephaly; Ulnar deviation of finger; Ulnar deviation of the wrist; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge
ATIC2q35100%gene with protein product601731Abnormality of metabolism/homeostasis; Abnormality of the skin; Anteverted nares; Atrial septal defect; Autosomal recessive inheritance; Brachycephaly; Clitoral hypertrophy; Congenital blindness; Frontal bossing; Fused labia minora; Generalized hypotonia; Intellectual disability, profound; Intellectual disability, severe; Low-set ears; Optic atrophy; Prominent forehead; Prominent nasal bridge; Seizures; Thin upper lip vermilion; Wide mouth
ATIC2q35100%gene with protein product601731Abnormality of metabolism/homeostasis; Abnormality of the skin; Anteverted nares; Atrial septal defect; Autosomal recessive inheritance; Brachycephaly; Clitoral hypertrophy; Congenital blindness; Frontal bossing; Fused labia minora; Generalized hypotonia; Intellectual disability, profound; Intellectual disability, severe; Low-set ears; Optic atrophy; Prominent forehead; Prominent nasal bridge; Seizures; Thin upper lip vermilion; Wide mouth
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
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
B3GAT311q12.3100%gene with protein product606374Abnormally large globe; Accelerated skeletal maturation; Amblyopia; Aortic root aneurysm; Autosomal recessive inheritance; Bicuspid aortic valve; Bilateral elbow dislocations; Brachycephaly; Broad distal phalanges of all fingers; Cardiomegaly; Cleft palate; Congenital glaucoma; Cutis laxa; Depressed nasal bridge; Downslanted palpebral fissures; Elbow flexion contracture; Enlarged metaphyses; Esotropia; Frontal bossing; Hip dislocation; Hydrocephalus; Hypermetropia; Hypertelorism; Joint laxity; Knee dislocation; Left ventricular hypertrophy; Low posterior hairline; Low-set ears; Metatarsus adductus; Microdontia; Microtia; Midface retrusion; Mitral valve prolapse; Multiple joint dislocation; Narrow chest; Narrow mouth; Osteopenia; Patent foramen ovale; Pes planus; Prominent forehead; Radioulnar synostosis; Scoliosis; Short neck; Small face; Spatulate thumbs; Talipes equinovalgus; Talipes equinovarus; Thick eyebrow
B3GLCT13q12.399.62%gene with protein productFormer name = B3GALTL610308B3GALTLAbnormal cardiac septum morphology; Abnormality of the pulmonary artery; Agenesis of corpus callosum; Agenesis of maxillary lateral incisor; Anterior chamber synechiae; Atrial septal defect; Autosomal recessive inheritance; Biliary tract abnormality; Bilobate gallbladder; Birth length less than 3rd percentile; Brachycephaly; Brachydactyly; Broad neck; Cataract; Cerebral atrophy; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Clitoral hypoplasia; Conical incisor; Corneal opacity; Craniosynostosis; Cryptorchidism; Decreased body weight; Decreased fetal movement; Diastasis recti; Disproportionate short-limb short stature; Facial hypertrichosis; Feeding difficulties in infancy; Frontal bossing; Glaucoma; Global developmental delay; Hemivertebrae; Hydrocephalus; Hydronephrosis; Hypertelorism; Hypoplasia of the uterus; Hypoplasia of the vagina; Hypoplastic labia majora; Hypospadias; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Joint laxity; Limited elbow movement; Long philtrum; Macrocephaly; Microcephaly; Microcornea; Micrognathia; Micromelia; Microtia, second degree; Myopia; Nystagmus; Pectus excavatum; Pes cavus; Peters anomaly; Polyhydramnios; Postnatal growth retardation; Preauricular pit; Preauricular skin tag; Prominent forehead; Protruding ear; Proximal placement of thumb; Ptosis; Pulmonic stenosis; Retinal coloboma; Rhizomelia; Round face; Scoliosis; Seizures; Short columella; Short foot; Short lingual frenulum; Short metacarpal; Short metatarsal; Short palm; Short palpebral fissure; Short toe; Single transverse palmar crease; Square pelvis bone; Stenosis of the external auditory canal; Syndactyly; Thin upper lip vermilion; Toe syndactyly; Umbilical hernia; Upslanted palpebral fissure; Ureteral duplication; Ventricular septal defect; Ventriculomegaly; Webbed neck; Wide anterior fontanel; Wide intermamillary distanceDisorders of Sex Development
B3GLCT13q12.399.62%gene with protein productFormer name = B3GALTL610308B3GALTLAbnormal cardiac septum morphology; Abnormality of the pulmonary artery; Agenesis of corpus callosum; Agenesis of maxillary lateral incisor; Anterior chamber synechiae; Atrial septal defect; Autosomal recessive inheritance; Biliary tract abnormality; Bilobate gallbladder; Birth length less than 3rd percentile; Brachycephaly; Brachydactyly; Broad neck; Cataract; Cerebral atrophy; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Clitoral hypoplasia; Conical incisor; Corneal opacity; Craniosynostosis; Cryptorchidism; Decreased body weight; Decreased fetal movement; Diastasis recti; Disproportionate short-limb short stature; Facial hypertrichosis; Feeding difficulties in infancy; Frontal bossing; Glaucoma; Global developmental delay; Hemivertebrae; Hydrocephalus; Hydronephrosis; Hypertelorism; Hypoplasia of the uterus; Hypoplasia of the vagina; Hypoplastic labia majora; Hypospadias; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Joint laxity; Limited elbow movement; Long philtrum; Macrocephaly; Microcephaly; Microcornea; Micrognathia; Micromelia; Microtia, second degree; Myopia; Nystagmus; Pectus excavatum; Pes cavus; Peters anomaly; Polyhydramnios; Postnatal growth retardation; Preauricular pit; Preauricular skin tag; Prominent forehead; Protruding ear; Proximal placement of thumb; Ptosis; Pulmonic stenosis; Retinal coloboma; Rhizomelia; Round face; Scoliosis; Seizures; Short columella; Short foot; Short lingual frenulum; Short metacarpal; Short metatarsal; Short palm; Short palpebral fissure; Short toe; Single transverse palmar crease; Square pelvis bone; Stenosis of the external auditory canal; Syndactyly; Thin upper lip vermilion; Toe syndactyly; Umbilical hernia; Upslanted palpebral fissure; Ureteral duplication; Ventricular septal defect; Ventriculomegaly; Webbed neck; Wide anterior fontanel; Wide intermamillary distanceDisorders of Sex Development
BRAF7q3499.88%gene with protein product164757Abnormal aortic valve morphology; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal hypothalamus morphology; Abnormal mitral valve morphology; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormal visual field test; Abnormality of coagulation; Abnormality of the pulmonary artery; Abnormality of the spleen; Abnormality of the ulna; Abnormality of vision; Absent eyebrow; Absent eyelashes; Alveolar cell carcinoma; Amegakaryocytic thrombocytopenia; Anterior creases of earlobe; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the eyebrow; Arrhythmia; Atopic dermatitis; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Bitemporal hemianopia; Brachydactyly; Brittle hair; Bronchogenic cyst; Bulbous nose; Bundle branch block; Cavernous hemangioma; Central adrenal insufficiency; Central diabetes insipidus; Cerebral calcification; Cerebral cortical atrophy; Clinodactyly; Clinodactyly of the 5th finger; Coarctation of aorta; Coarse facial features; Coarse hair; Cognitive impairment; Congenital onset; Constipation; Cryptorchidism; Cubitus valgus; Curly hair; Cystic hygroma; Decreased fertility; Deep palmar crease; Deep philtrum; Delayed skeletal maturation; Dental malocclusion; Depressed nasal bridge; Dolichocephaly; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphagia; Dystrophic fingernails; EEG abnormality; Enlarged pituitary gland; Enlarged thorax; Epicanthus; Excessive daytime somnolence; Excessive wrinkled skin; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Freckling; Frontal bossing; Full cheeks; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypotonia; Global developmental delay; Growth delay; Headache; Hearing impairment; Hepatomegaly; Heterogeneous; High forehead; High palate; High, narrow palate; Hydrocephalus; Hydronephrosis; Hyperextensibility of the finger joints; Hyperextensible skin; Hyperkeratosis; Hypertelorism; Hypertonia; Hypertrophic cardiomyopathy; Hypogonadotrophic hypogonadism; Hypomelanotic macule; Hypoplasia of the frontal lobes; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Intracranial cystic lesion; Intrauterine growth retardation; Joint hyperflexibility; Kyphoscoliosis; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Macrotia; Male infertility; Melanocytic nevus; Micrognathia; Midface retrusion; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple palmar creases; Multiple plantar creases; Muscle weakness; Muscular hypotonia; Myopia; Narrow forehead; Nausea and vomiting; Neonatal hypotonia; Neoplasm of the anterior pituitary; Neurofibrosarcoma; Numerous nevi; Nystagmus; Obesity; Oculomotor apraxia; Open bite; Open mouth; Optic nerve dysplasia; Osteolysis; Osteopenia; Palmoplantar keratoderma; Papilledema; Papule; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pectus excavatum of inferior sternum; Pituitary hypothyroidism; Polyhydramnios; Poor suck; Posteriorly rotated ears; Postnatal growth retardation; Premature birth; Progressive visual field defects; Progressive visual loss; Prolactin excess; Prominent forehead; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonic stenosis; Radial deviation of finger; Reduced factor XII activity; Reduced factor XIII activity; Relative macrocephaly; Scapular winging; Scoliosis; Seizures; Sensorineural hearing impairment; Severe sensorineural hearing impairment; Shield chest; Short neck; Short nose; Short stature; Skin nodule; Slow decrease in visual acuity; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Splenomegaly; Sprengel anomaly; Strabismus; Submucous cleft hard palate; Superior pectus carinatum; Synovitis; Tetralogy of Fallot; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Tongue thrusting; Triangular face; Underdeveloped supraorbital ridges; Ventricular septal defect; Vomiting; Webbed neck; Wide intermamillary distance; Wide nasal bridge
BRAF7q3499.88%gene with protein product164757Abnormal aortic valve morphology; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal hypothalamus morphology; Abnormal mitral valve morphology; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormal visual field test; Abnormality of coagulation; Abnormality of the pulmonary artery; Abnormality of the spleen; Abnormality of the ulna; Abnormality of vision; Absent eyebrow; Absent eyelashes; Alveolar cell carcinoma; Amegakaryocytic thrombocytopenia; Anterior creases of earlobe; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the eyebrow; Arrhythmia; Atopic dermatitis; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Bitemporal hemianopia; Brachydactyly; Brittle hair; Bronchogenic cyst; Bulbous nose; Bundle branch block; Cavernous hemangioma; Central adrenal insufficiency; Central diabetes insipidus; Cerebral calcification; Cerebral cortical atrophy; Clinodactyly; Clinodactyly of the 5th finger; Coarctation of aorta; Coarse facial features; Coarse hair; Cognitive impairment; Congenital onset; Constipation; Cryptorchidism; Cubitus valgus; Curly hair; Cystic hygroma; Decreased fertility; Deep palmar crease; Deep philtrum; Delayed skeletal maturation; Dental malocclusion; Depressed nasal bridge; Dolichocephaly; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphagia; Dystrophic fingernails; EEG abnormality; Enlarged pituitary gland; Enlarged thorax; Epicanthus; Excessive daytime somnolence; Excessive wrinkled skin; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Freckling; Frontal bossing; Full cheeks; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypotonia; Global developmental delay; Growth delay; Headache; Hearing impairment; Hepatomegaly; Heterogeneous; High forehead; High palate; High, narrow palate; Hydrocephalus; Hydronephrosis; Hyperextensibility of the finger joints; Hyperextensible skin; Hyperkeratosis; Hypertelorism; Hypertonia; Hypertrophic cardiomyopathy; Hypogonadotrophic hypogonadism; Hypomelanotic macule; Hypoplasia of the frontal lobes; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Intracranial cystic lesion; Intrauterine growth retardation; Joint hyperflexibility; Kyphoscoliosis; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Macrotia; Male infertility; Melanocytic nevus; Micrognathia; Midface retrusion; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple palmar creases; Multiple plantar creases; Muscle weakness; Muscular hypotonia; Myopia; Narrow forehead; Nausea and vomiting; Neonatal hypotonia; Neoplasm of the anterior pituitary; Neurofibrosarcoma; Numerous nevi; Nystagmus; Obesity; Oculomotor apraxia; Open bite; Open mouth; Optic nerve dysplasia; Osteolysis; Osteopenia; Palmoplantar keratoderma; Papilledema; Papule; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pectus excavatum of inferior sternum; Pituitary hypothyroidism; Polyhydramnios; Poor suck; Posteriorly rotated ears; Postnatal growth retardation; Premature birth; Progressive visual field defects; Progressive visual loss; Prolactin excess; Prominent forehead; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonic stenosis; Radial deviation of finger; Reduced factor XII activity; Reduced factor XIII activity; Relative macrocephaly; Scapular winging; Scoliosis; Seizures; Sensorineural hearing impairment; Severe sensorineural hearing impairment; Shield chest; Short neck; Short nose; Short stature; Skin nodule; Slow decrease in visual acuity; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Splenomegaly; Sprengel anomaly; Strabismus; Submucous cleft hard palate; Superior pectus carinatum; Synovitis; Tetralogy of Fallot; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Tongue thrusting; Triangular face; Underdeveloped supraorbital ridges; Ventricular septal defect; Vomiting; Webbed neck; Wide intermamillary distance; Wide nasal bridge
BRWD3Xq21.199.97%gene with protein product300553Cryptorchidism; Cupped ear; Delayed speech and language development; Frontal bossing; Generalized hypotonia; Intellectual disability, mild; Long face; Macrocephaly; Macrotia; Pes planus; Prominent forehead; X-linked recessive inheritance
CCND212p13.32100%gene with protein product123833Abnormal localization of kidney; Abnormal nasal morphology; Autosomal dominant inheritance; Congenital onset; Depressed nasal bridge; Global developmental delay; High forehead; Hydrocephalus; Hypertelorism; Macrocephaly; Megalencephaly; Mitral regurgitation; Narrow mouth; Polymicrogyria; Postaxial hand polydactyly; Prominent forehead; Seizures; Telecanthus; Ventricular septal defect; Ventriculomegaly
CDKL5Xp22.1396.91%gene with protein product300203STK9Abnormality of movement; Abnormality of skin morphology; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Broad forehead; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Developmental regression; EEG abnormality; Epileptic encephalopathy; Fine hair; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hearing impairment; Hyperventilation; Hypsarrhythmia; Inability to walk; Infantile onset; Infantile spasms; Intellectual disability; Intellectual disability, profound; Long philtrum; Microcephaly; Multifocal seizures; Myoclonus; Nephrolithiasis; Poor eye contact; Progressive microcephaly; Prominent forehead; Scoliosis; Seizures; Short foot; Short palm; Small hand; Spasticity; Stereotypy; Tapered finger; Thick lower lip vermilion; Thick vermilion border; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance
CDKN1C11p15.487.26%gene with protein product600856BWCR, BWSAccelerated skeletal maturation; Adrenal hypoplasia; Adrenocortical carcinoma; Adrenocortical cytomegaly; Autosomal dominant inheritance; Cardiomegaly; Cardiomyopathy; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Diastasis recti; Enlarged kidney; Epiphyseal dysplasia; Frontal bossing; Gonadoblastoma; Growth hormone deficiency; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; Hydronephrosis; Hypercalcemia; Hypercalciuria; Hypogonadism; Hypospadias; Intrauterine growth retardation; Large fontanelles; Low-set ears; Macroglossia; Metaphyseal dysplasia; Micromelia; Micropenis; Midface retrusion; Muscular hypotonia; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Posterior helix pit; Postnatal growth retardation; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Renal cortical cysts; Short nose; Short stature; Vesicoureteral refluxDisorders of Sex Development
CHST310q22.1100%gene with protein product603799Abnormal form of the vertebral bodies; Abnormality of cardiovascular system morphology; Abnormally large globe; Accelerated skeletal maturation; Amblyopia; Aortic regurgitation; Aortic root aneurysm; Aortic valve stenosis; Arthralgia; Arthropathy; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Bicuspid aortic valve; Bilateral elbow dislocations; Bilateral single transverse palmar creases; Brachycephaly; Brachydactyly; Broad distal phalanges of all fingers; Broad forehead; Camptodactyly of finger; Cardiomegaly; Cleft palate; Congenital glaucoma; Coronal cleft vertebrae; Cubitus valgus; Cutis laxa; Decreased hip abduction; Delayed eruption of teeth; Delayed gross motor development; Delayed skeletal maturation; Depressed nasal bridge; Deviation of the 5th finger; Disproportionate short-trunk short stature; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Enlarged joints; Enlarged metaphyses; Esotropia; Fixed elbow flexion; Flattened epiphysis; Flexion contracture; Frontal bossing; Generalized bone demineralization; Genu valgum; Hearing impairment; High palate; Highly arched eyebrow; Hip dislocation; Hydrocephalus; Hypermetropia; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the ulna; Intervertebral space narrowing; Irregular epiphyses; Irregular vertebral endplates; Joint laxity; Knee dislocation; Kyphoscoliosis; Left ventricular hypertrophy; Limited hip extension; Long philtrum; Low posterior hairline; Low-set ears; Lumbar hyperlordosis; Metatarsus adductus; Microdontia; Microtia; Midface retrusion; Mitral regurgitation; Mitral stenosis; Mitral valve prolapse; Motor delay; Multiple carpal ossification centers; Multiple joint dislocation; Narrow chest; Narrow mouth; Narrow vertebral interpedicular distance; Osteopenia; Patent foramen ovale; Pes planus; Prominent forehead; Pulmonary arterial hypertension; Pulmonic stenosis; Radioulnar synostosis; Rhizomelia; Scoliosis; Shield chest; Short distal phalanx of finger; Short femoral neck; Short metacarpal; Short neck; Short phalanx of finger; Shoulder dislocation; Small epiphyses; Small face; Sparse and thin eyebrow; Sparse eyebrow; Spatulate thumbs; Spondyloepiphyseal dysplasia; Talipes equinovalgus; Talipes equinovarus; Thick eyebrow; Tibial bowing; Tricuspid regurgitation; Tricuspid stenosis; Ulnar bowing; Ventricular hypertrophy; Ventricular septal defect; Waddling gait; Wide intermamillary distance; Widely spaced teeth
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
COL27A19q3299.99%gene with protein product608461Autosomal recessive inheritance; Dislocated radial head; Hypertelorism; Prominent forehead; Scoliosis; Short stature; Wide nasal bridge
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
CPT21p32.3100%gene with protein product600650CPT1Abnormality of nervous system morphology; Abnormality of the foot; Agenesis of corpus callosum; Antenatal intracerebral hemorrhage; Apnea; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia cysts; Bulbous nose; Cardiomegaly; Cardiomyopathy; Cataract; Coma; Decreased plasma free carnitine; Decreased plasma total carnitine; Dilated cardiomyopathy; Elbow flexion contracture; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Elevated serum long-chain fatty acids; Enlarged kidney; Fatigue; Feeding difficulties in infancy; Hepatic calcification; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperammonemia; Hypoketotic hypoglycemia; Hypoplastic toenails; Increased muscle lipid content; Increased total bilirubin; Infantile onset; Intracerebral periventricular calcifications; Knee flexion contracture; Lethargy; Long toe; Long-chain dicarboxylic aciduria; Low-set ears; Macrovesicular hepatic steatosis; Microcephaly; Multicystic kidney dysplasia; Muscle cramps; Muscle stiffness; Muscle weakness; Muscular hypotonia; Myalgia; Myoglobinuria; Myopathy; Narrow palate; Nausea and vomiting; Neonatal hypotonia; Nonketotic hypoglycemia; Overfolded helix; Polycystic kidney dysplasia; Polymicrogyria; Posteriorly rotated ears; Prominent forehead; Renal insufficiency; Respiratory arrest; Respiratory distress; Respiratory failure; Respiratory insufficiency; Rhabdomyolysis; Seizures; Sloping forehead; Tapered finger; Tapered toe; Ureteral duplication; Ventriculomegaly; Vomiting; Wide intermamillary distanceRhabdomyolysis
D2HGDH2q37.3100%gene with protein product609186Aortic regurgitation; Apnea; Autosomal recessive inheritance; Cardiomyopathy; D-2-hydroxyglutaric aciduria; Delayed CNS myelination; Dilation of lateral ventricles; Episodic vomiting; Frontal bossing; Generalized hypotonia; Global developmental delay; Glutaric aciduria; Infantile encephalopathy; Inspiratory stridor; Intellectual disability; Macrocephaly; Micrognathia; Multifocal cerebral white matter abnormalities; Muscle weakness; Prominent forehead; Seizures; Subependymal cysts
DPH117p13.3100%gene with protein product603527DPH2L, DPH2L1Abnormality of the dentition; Autosomal recessive inheritance; Congenital onset; Craniosynostosis; Depressed nasal bridge; Downslanted palpebral fissures; Epicanthus; Global developmental delay; Hypertelorism; Hypoplastic toenails; Intellectual disability; Low-set ears; Micrognathia; Prominent forehead; Scaphocephaly; Short stature; Sparse eyebrow; Sparse eyelashes; Trigonocephaly; Ventricular septal 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
DYNC1H114q32.31100%gene with protein product600112DNECL, DNCL, DNCH1Abnormality of the foot; Autosomal dominant inheritance; Childhood onset; Decreased motor nerve conduction velocity; Decreased patellar reflex; Difficulty running; Distal muscle weakness; Distal sensory impairment; Downslanted palpebral fissures; EMG: neuropathic changes; Focal seizures; Frequent falls; Gait disturbance; Hyporeflexia; Intellectual disability; Limb muscle weakness; Microcephaly; Motor delay; Muscular hypotonia; Pachygyria; Pes cavus; Phenotypic variability; Plagiocephaly; Prominent forehead; Proximal lower limb amyotrophy; Proximal muscle weakness in lower limbs; Seizures; Sensory impairment; Slow progression; Spinal muscular atrophy; Type 2 muscle fiber predominance; Waddling gait
EBF310q26.3100%gene with protein product607407Apraxia; Astigmatism; Autosomal dominant inheritance; Broad chin; Broad nasal tip; Cryptorchidism; Deep philtrum; Deeply set eye; Delayed speech and language development; Downslanted palpebral fissures; Downturned corners of mouth; Dysarthria; Dysmetria; Dysphagia; Epicanthus; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High forehead; Horizontal eyebrow; Hypertelorism; Infantile onset; Intellectual disability; Inverted nipples; Long face; Low-set ears; Micropenis; Myopathic facies; Oval face; Overfolded helix; Posteriorly rotated ears; Prominent forehead; Prominent nasal bridge; Short chin; Stereotypy; Strabismus; Synophrys; Thin upper lip vermilion; Triangular face; Vesicoureteral reflux
EFEMP211q13.1100%gene with protein product604633Abnormality of the pinna; Aortic aneurysm; Arachnodactyly; Arterial fibromuscular dysplasia; Arterial stenosis; Arterial tortuosity; Atelectasis; Autosomal recessive inheritance; Bladder diverticulum; Bulbous nose; Congenital diaphragmatic hernia; Cutis laxa; Delayed cranial suture closure; Downslanted palpebral fissures; Emphysema; Full cheeks; Generalized arterial tortuosity; Generalized hypotonia; High palate; Hypertelorism; Ileus; Inguinal hernia; Joint hyperflexibility; Joint hypermobility; Low-set ears; Microcephaly; Micrognathia; Narrow palpebral fissure; Pectus excavatum; Premature skin wrinkling; Prominence of the premaxilla; Prominent forehead; Proptosis; Ptosis; Pulmonary artery aneurysm; Pulmonary artery dilatation; Pulmonary insufficiency; Recurrent urinary tract infections; Redundant skin; Renal diverticulum; Soft skin
ERF19q13.2100%gene with protein product611888Abnormal facial shape; Abnormal form of the vertebral bodies; Anteverted nares; Arnold-Chiari malformation; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Bronchomalacia; Cerebellar hypoplasia; Cognitive impairment; Conductive hearing impairment; Conjunctivitis; Convex nasal ridge; Craniosynostosis; Depressed nasal bridge; Dolichocephaly; External ear malformation; Finger syndactyly; Flat occiput; Frontal bossing; High forehead; Hypertelorism; Hypoplasia of the maxilla; Increased intracranial pressure; Interstitial pulmonary abnormality; Lambdoidal craniosynostosis; Limitation of joint mobility; Low-set, posteriorly rotated ears; Malar flattening; Midface retrusion; Multiple suture craniosynostosis; Muscular hypotonia; Plagiocephaly; Polyhydramnios; Posterior plagiocephaly; Prominent forehead; Proptosis; Ptosis; Recurrent respiratory infections; Retrognathia; Short columella; Skeletal dysplasia; Stomatocytosis; Strabismus; Thick vermilion border; Tracheomalacia; TurricephalyBone Marrow Failure Syndromes
ERF19q13.2100%gene with protein product611888Abnormal facial shape; Abnormal form of the vertebral bodies; Anteverted nares; Arnold-Chiari malformation; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Bronchomalacia; Cerebellar hypoplasia; Cognitive impairment; Conductive hearing impairment; Conjunctivitis; Convex nasal ridge; Craniosynostosis; Depressed nasal bridge; Dolichocephaly; External ear malformation; Finger syndactyly; Flat occiput; Frontal bossing; High forehead; Hypertelorism; Hypoplasia of the maxilla; Increased intracranial pressure; Interstitial pulmonary abnormality; Lambdoidal craniosynostosis; Limitation of joint mobility; Low-set, posteriorly rotated ears; Malar flattening; Midface retrusion; Multiple suture craniosynostosis; Muscular hypotonia; Plagiocephaly; Polyhydramnios; Posterior plagiocephaly; Prominent forehead; Proptosis; Ptosis; Recurrent respiratory infections; Retrognathia; Short columella; Skeletal dysplasia; Stomatocytosis; Strabismus; Thick vermilion border; Tracheomalacia; TurricephalyBone 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
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
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
FLNAXq2899.99%gene with protein product300017FLN1, FLN, OPD2, OPD1Abdominal distention; Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormal facial shape; Abnormal foot bone ossification; Abnormal form of the vertebral bodies; Abnormal hand bone ossification; Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormal vertebral segmentation and fusion; Abnormality of dental morphology; Abnormality of metabolism/homeostasis; Abnormality of neuronal migration; Abnormality of skin pigmentation; Abnormality of the coagulation cascade; Abnormality of the fifth metatarsal bone; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the ribs; Absent frontal sinuses; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Accessory carpal bones; Anisospondyly; Ankle contracture; Anodontia; Antegonial notching of mandible; Anterior concavity of thoracic vertebrae; Anteriorly placed odontoid process; Aortic regurgitation; Arachnodactyly; Bicuspid aortic valve; Bipartite calcaneus; Bowing of the long bones; Brachydactyly; Broad distal phalanx of the thumb; Broad face; Broad forehead; Broad hallux; Broad phalanges of the hand; Broad thumb; Bulbous tips of toes; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Cerebellar hypoplasia; Cleft palate; Coarse facial features; Coarse hair; Coat hanger sign of ribs; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Congenital hip dislocation; Congestive heart failure; Constipation; Cor pulmonale; Coxa valga; Craniofacial hyperostosis; Cryptorchidism; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Facial asymmetry; Failure to thrive; Feeding difficulties in infancy; Femoral bowing; Fibroma; Fibular aplasia; Flared iliac wings; Flared metaphysis; Flat face; Focal seizures; Frontal bossing; Frontal hirsutism; Full cheeks; Fused cervical vertebrae; Gait disturbance; Gastroesophageal reflux; Genu valgum; Global developmental delay; Glossoptosis; Hearing impairment; Hernia; Heterotopia; High palate; Hip dislocation; Hirsutism; Hoarse voice; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the musculature; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic scapulae; Hypospadias; Hypotrichosis; Increased bone mineral density; Increased density of long bone diaphyses; Increased mean platelet volume; Increased size of the mandible; Infantile onset; Intellectual disability; Intellectual disability, mild; Intestinal hypoplasia; Intestinal malrotation; Intestinal pseudo-obstruction; Iris coloboma; Irregular metacarpals; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Large fontanelles; Large foramen magnum; Large forehead; Lateral femoral bowing; Limitation of joint mobility; Limited elbow extension; Limited knee flexion; Lipoatrophy; Localized skin lesion; Long fingers; Long foot; Long metacarpals; Long neck; Long phalanx of finger; Low-set ears; Macrotia; Malar flattening; Micrognathia; Midface retrusion; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Motor delay; Multiple impacted teeth; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow chest; Narrow mouth; Neonatal hypotonia; Nonossified fifth metatarsal; Obtuse angle of mandible; Oligodontia; Omphalocele; Osteolytic defects of the phalanges of the hand; Overlapping fingers; Partial fusion of carpals; Partial fusion of tarsals; Patent ductus arteriosus; Pectus excavatum; Periventricular gray matter heterotopia; Persistence of primary teeth; Pes planus; Pierre-Robin sequence; Platyspondyly; Pointed chin; Postaxial hand polydactyly; Posterior vertebral hypoplasia; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Prominent occiput; Prominent supraorbital ridges; Proptosis; Proximal placement of thumb; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Pyloric stenosis; Radial bowing; Radial deviation of the 2nd finger; Recurrent otitis media; Recurrent respiratory infections; Reduced number of teeth; Respiratory failure; Rocker bottom foot; Rudimentary fibula; Sandal gap; Scapular winging; Sclerosis of skull base; Scoliosis; Seizures; Selective tooth agenesis; Sensorineural hearing impairment; Short 3rd metacarpal; Short 4th metacarpal; Short 5th metacarpal; Short chin; Short chordae tendineae of the mitral valve; Short chordae tendineae of the tricuspid valve; Short clavicles; Short distal phalanx of finger; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short nose; Short palm; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Small face; Smooth philtrum; Spondylolysis; Stillbirth; Strabismus; Stridor; Stroke; Synostosis of carpal bones; Talipes equinovarus; Thick skull base; Thickened calvaria; Thin skin; Thrombocytopenia; Tibial bowing; Toe clinodactyly; Toe syndactyly; Tricuspid regurgitation; Tricuspid valve prolapse; Ulnar bowing; Ulnar deviation of finger; Underdeveloped superior crus of antihelix; Undulate clavicles; Ureteral obstruction; Ureteral stenosis; Vertical clivus; Vesicoureteral reflux; Vomiting; Wide anterior fontanel; Wide nasal bridge; Wormian bones; Wrist flexion contracture; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
FLNB3p14.3100%gene with protein product603381FLN1L, LRS111 pairs of ribs; Abnormality of femur morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the humerus; Abnormality of the metacarpal bones; Abnormality of the radius; Abnormality of tibia morphology; Absent radius; Accessory carpal bones; Aortic aneurysm; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the ulna; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Beaking of vertebral bodies; Bipartite calcaneus; Block vertebrae; Brachydactyly; Broad distal phalanx of finger; Broad face; Broad nasal tip; Broad thumb; Bronchomalacia; C2-C3 subluxation; Capitate-hamate fusion; Carpal synostosis; Cataract; Cervical kyphosis; Cervical segmentation defect; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Club-shaped proximal femur; Clubbing; Conductive hearing impairment; Corneal opacity; Coronal cleft vertebrae; Cryptorchidism; Delayed skeletal maturation; Depressed nasal bridge; Dislocated wrist; Disproportionate short-trunk short stature; Distal tapering femur; Elbow dislocation; Encephalocele; Epiphyseal dysplasia; Fibular aplasia; Finger syndactyly; Flat acetabular roof; Flat face; Frontal bossing; Fused cervical vertebrae; Growth hormone deficiency; Hip dislocation; Hitchhiker thumb; Horizontal sacrum; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplastic cervical vertebrae; Hypoplastic iliac body; Hypoplastic nasal septum; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Knee dislocation; Large joint dislocations; Laryngeal stenosis; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Mixed hearing impairment; Multinucleated giant chondrocytes in epiphyseal cartilage; Multiple carpal ossification centers; Narrow chest; Neonatal death; Omphalocele; Pectus carinatum; Pectus excavatum; Pes planus; Polyhydramnios; Poorly ossified vertebrae; Preauricular skin tag; Premature birth; Prominent forehead; Prominent occiput; Proptosis; Radial bowing; Renal cyst; Restrictive ventilatory defect; Rhizomelia; Sandal gap; Scoliosis; Sensorineural hearing impairment; Severe short stature; Severe short-limb dwarfism; Shallow orbits; Short distal phalanx of finger; Short femur; Short humerus; Short metacarpal; Short metatarsal; Short nail; Short neck; Short nose; Short stature; Spatulate thumbs; Spina bifida occulta; Spinal cord compression; Spondylolysis; Sporadic; Stillbirth; Talipes equinovalgus; Talipes equinovarus; Tarsal synostosis; Thoracic platyspondyly; Tibial bowing; Tombstone-shaped proximal phalanges; Tracheal stenosis; Tracheomalacia; Underdeveloped nasal alae; Ventricular septal defect; Wide nasal bridge; Widened distal phalanges
FLNB3p14.3100%gene with protein product603381FLN1L, LRS111 pairs of ribs; Abnormality of femur morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the humerus; Abnormality of the metacarpal bones; Abnormality of the radius; Abnormality of tibia morphology; Absent radius; Accessory carpal bones; Aortic aneurysm; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the ulna; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Beaking of vertebral bodies; Bipartite calcaneus; Block vertebrae; Brachydactyly; Broad distal phalanx of finger; Broad face; Broad nasal tip; Broad thumb; Bronchomalacia; C2-C3 subluxation; Capitate-hamate fusion; Carpal synostosis; Cataract; Cervical kyphosis; Cervical segmentation defect; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Club-shaped proximal femur; Clubbing; Conductive hearing impairment; Corneal opacity; Coronal cleft vertebrae; Cryptorchidism; Delayed skeletal maturation; Depressed nasal bridge; Dislocated wrist; Disproportionate short-trunk short stature; Distal tapering femur; Elbow dislocation; Encephalocele; Epiphyseal dysplasia; Fibular aplasia; Finger syndactyly; Flat acetabular roof; Flat face; Frontal bossing; Fused cervical vertebrae; Growth hormone deficiency; Hip dislocation; Hitchhiker thumb; Horizontal sacrum; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplastic cervical vertebrae; Hypoplastic iliac body; Hypoplastic nasal septum; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Knee dislocation; Large joint dislocations; Laryngeal stenosis; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Mixed hearing impairment; Multinucleated giant chondrocytes in epiphyseal cartilage; Multiple carpal ossification centers; Narrow chest; Neonatal death; Omphalocele; Pectus carinatum; Pectus excavatum; Pes planus; Polyhydramnios; Poorly ossified vertebrae; Preauricular skin tag; Premature birth; Prominent forehead; Prominent occiput; Proptosis; Radial bowing; Renal cyst; Restrictive ventilatory defect; Rhizomelia; Sandal gap; Scoliosis; Sensorineural hearing impairment; Severe short stature; Severe short-limb dwarfism; Shallow orbits; Short distal phalanx of finger; Short femur; Short humerus; Short metacarpal; Short metatarsal; Short nail; Short neck; Short nose; Short stature; Spatulate thumbs; Spina bifida occulta; Spinal cord compression; Spondylolysis; Sporadic; Stillbirth; Talipes equinovalgus; Talipes equinovarus; Tarsal synostosis; Thoracic platyspondyly; Tibial bowing; Tombstone-shaped proximal phalanges; Tracheal stenosis; Tracheomalacia; Underdeveloped nasal alae; Ventricular septal defect; Wide nasal bridge; Widened distal phalanges
FOXP13p1399.87%gene with protein product605515Aggressive behavior; Anemia; Autosomal dominant inheritance; B-cell lymphoma; Broad nasal tip; Constipation; Delayed gross motor development; Delayed speech and language development; Downslanted palpebral fissures; Fatigue; Fever; Generalized hypotonia; Hyperactivity; Hyperhidrosis; Hypertelorism; Intellectual disability; Macrocephaly; Nausea and vomiting; Nystagmus; Open mouth; Prominent forehead; Pulmonary infiltrates; Retrognathia; Short nose; Stereotypy; Strabismus; Weight loss
FUCA11p36.11100%gene with protein product612280Abnormality of the abdominal wall; Abnormality of the gallbladder; Absent/hypoplastic coccyx; Absent/hypoplastic paranasal sinuses; Angiokeratoma; Anhidrosis; Anterior beaking of lumbar vertebrae; Anterior beaking of thoracic vertebrae; Autosomal recessive inheritance; Barrel-shaped chest; Brachycephaly; Cardiomegaly; Cerebral atrophy; Cervical platyspondyly; Coarse facial features; Corneal opacity; Coxa valga; Decreased muscle mass; Dry skin; Dysostosis multiplex; Elevated sweat chloride; Failure to thrive; Flexion contracture; Frontal bossing; Generalized hyperkeratosis; Global developmental delay; Hearing impairment; Hepatomegaly; Hernia; Hyperhidrosis; Hypertelorism; Hypothyroidism; Intellectual disability; Intellectual disability, severe; Kyphosis; Lipoatrophy; Lumbar hyperlordosis; Macroglossia; Mucopolysacchariduria; Muscular hypotonia; Oligosacchariduria; Polyneuropathy; Prominent forehead; Recurrent respiratory infections; Scoliosis; Seizures; Shield chest; Short stature; Spastic tetraplegia; Splenomegaly; Thick eyebrow; Thick lower lip vermilion; Tortuosity of conjunctival vessels; Vacuolated lymphocytes; Vascular skin abnormality; Wide nose
FUCA11p36.11100%gene with protein product612280Abnormality of the abdominal wall; Abnormality of the gallbladder; Absent/hypoplastic coccyx; Absent/hypoplastic paranasal sinuses; Angiokeratoma; Anhidrosis; Anterior beaking of lumbar vertebrae; Anterior beaking of thoracic vertebrae; Autosomal recessive inheritance; Barrel-shaped chest; Brachycephaly; Cardiomegaly; Cerebral atrophy; Cervical platyspondyly; Coarse facial features; Corneal opacity; Coxa valga; Decreased muscle mass; Dry skin; Dysostosis multiplex; Elevated sweat chloride; Failure to thrive; Flexion contracture; Frontal bossing; Generalized hyperkeratosis; Global developmental delay; Hearing impairment; Hepatomegaly; Hernia; Hyperhidrosis; Hypertelorism; Hypothyroidism; Intellectual disability; Intellectual disability, severe; Kyphosis; Lipoatrophy; Lumbar hyperlordosis; Macroglossia; Mucopolysacchariduria; Muscular hypotonia; Oligosacchariduria; Polyneuropathy; Prominent forehead; Recurrent respiratory infections; Scoliosis; Seizures; Shield chest; Short stature; Spastic tetraplegia; Splenomegaly; Thick eyebrow; Thick lower lip vermilion; Tortuosity of conjunctival vessels; Vacuolated lymphocytes; Vascular skin abnormality; Wide nose
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
GCDH19p13.13100%gene with protein product608801Abnormal facial shape; Abnormality of extrapyramidal motor function; Autosomal recessive inheritance; Choreoathetosis; Delayed myelination; Dilation of lateral ventricles; Dyskinesia; Dystonia; Encephalopathy; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Glutaric acidemia; Glutaric aciduria; Hepatomegaly; Hypoglycemia; Infantile encephalopathy; Irritability; Joint dislocation; Ketonuria; Ketosis; Large fontanelles; Macrocephaly; Metabolic acidosis; Muscular hypotonia; Opisthotonus; Prominent forehead; Rigidity; Spastic diplegia; Spasticity; Symmetrical progressive peripheral demyelination; Vomiting
GNE9p13.3100%gene with protein product603824IBM22-3 toe syndactyly; Abnormality of metabolism/homeostasis; Abnormality of the mitochondrion; Absent Achilles reflex; Adult onset; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Cholelithiasis; Coarse facial features; Deposits immunoreactive to beta-amyloid protein; Distal amyotrophy; Distal muscle weakness; Dysostosis multiplex; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: myotonic discharges; EMG: positive sharp waves; Epicanthus; Episodic abdominal pain; Expressive language delay; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Frontal bossing; Gait disturbance; Generalized hirsutism; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hepatosplenomegaly; High palate; High, narrow palate; Hip flexor weakness; Hoarse voice; Hyperkinesis; Hypertelorism; Hypoplastic nipples; Hypothyroidism; Increased variability in muscle fiber diameter; Inguinal hernia; Intellectual disability, mild; Joint hypermobility; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limited shoulder movement; Limited wrist extension; Long hallux; Long philtrum; Low posterior hairline; Low-set ears; Memory impairment; Mildly elevated creatine phosphokinase; Muscle fiber inclusion bodies; Periorbital fullness; Prolonged partial thromboplastin time; Prolonged prothrombin time; Prominent forehead; Protuberant abdomen; Proximal muscle weakness; Rimmed vacuoles; Scoliosis; Seizures; Shoulder girdle muscle weakness; Sleep apnea; Smooth philtrum; Spinal deformities; Splenomegaly; Steppage gait; Synophrys; Thin upper lip vermilion; Thoracic hypoplasia; Tibialis muscle weakness; Upper airway obstruction; Wide nasal bridgeBone Marrow Failure Syndromes ; Rhabdomyolysis
GNE9p13.3100%gene with protein product603824IBM22-3 toe syndactyly; Abnormality of metabolism/homeostasis; Abnormality of the mitochondrion; Absent Achilles reflex; Adult onset; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Cholelithiasis; Coarse facial features; Deposits immunoreactive to beta-amyloid protein; Distal amyotrophy; Distal muscle weakness; Dysostosis multiplex; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: myotonic discharges; EMG: positive sharp waves; Epicanthus; Episodic abdominal pain; Expressive language delay; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Frontal bossing; Gait disturbance; Generalized hirsutism; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hepatosplenomegaly; High palate; High, narrow palate; Hip flexor weakness; Hoarse voice; Hyperkinesis; Hypertelorism; Hypoplastic nipples; Hypothyroidism; Increased variability in muscle fiber diameter; Inguinal hernia; Intellectual disability, mild; Joint hypermobility; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limited shoulder movement; Limited wrist extension; Long hallux; Long philtrum; Low posterior hairline; Low-set ears; Memory impairment; Mildly elevated creatine phosphokinase; Muscle fiber inclusion bodies; Periorbital fullness; Prolonged partial thromboplastin time; Prolonged prothrombin time; Prominent forehead; Protuberant abdomen; Proximal muscle weakness; Rimmed vacuoles; Scoliosis; Seizures; Shoulder girdle muscle weakness; Sleep apnea; Smooth philtrum; Spinal deformities; Splenomegaly; Steppage gait; Synophrys; Thin upper lip vermilion; Thoracic hypoplasia; Tibialis muscle weakness; Upper airway obstruction; Wide nasal bridgeBone Marrow Failure Syndromes ; Rhabdomyolysis
GNS12q14.399.7%gene with protein product607664Absent speech; Anteverted nares; Asymmetric septal hypertrophy; Autosomal recessive inheritance; Cellular metachromasia; Coarse facial features; Coarse hair; Depressed nasal bridge; Diarrhea; Drooling; Dysarthria; Dysostosis multiplex; Dysphagia; Flexion contracture; Frontal bossing; Growth abnormality; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hirsutism; Hyperactivity; Intellectual disability; Joint stiffness; Low-set ears; Ovoid thoracolumbar vertebrae; Progressive; Prominent forehead; Recurrent upper respiratory tract infections; Seizures; Short neck; Sleep disturbance; Splenomegaly; Synophrys; Thick eyebrow; Thick lower lip vermilion; Thickened ribs; Wide mouth
HERC115q22.31100%gene with protein product605109Arachnodactyly; Autosomal recessive inheritance; Congenital onset; Downslanted palpebral fissures; Frontal bossing; Gait ataxia; Generalized hypotonia; Global developmental delay; High palate; Hyperlordosis; Hypertelorism; Intellectual disability; Joint laxity; Kyphosis; Large hands; Long face; Long foot; Long neck; Low-set ears; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Megalencephaly; Pes planus; Posteriorly rotated ears; Prominent forehead; Prominent nasal bridge; Proptosis; Scoliosis; Sparse eyebrow; Tall stature; Triangular face; Upslanted palpebral fissure; Ventriculomegaly
IARS21q4199.96%gene with protein product612801Achalasia; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Cataract; Cervical spinal canal stenosis; Congenital cataract; Congenital hip dislocation; Depressed nasal bridge; Distal sensory impairment; Fasting hypoglycemia; Flexion contracture; Genu valgum; Growth hormone deficiency; Hip dislocation; Hyporeflexia; Long philtrum; Motor delay; Narrow mouth; Nystagmus; Osteopenia; Periarticular subcutaneous nodules; Peripheral neuropathy; Prelingual sensorineural hearing impairment; Progressive sensorineural hearing impairment; Prominent forehead; Scoliosis; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory neuropathy; Short stature; Spinal canal stenosis; Spondyloepiphyseal dysplasia; Thick eyebrow; Thoracic kyphoscoliosis
IGF211p15.5100%gene with protein product147470C11orf43Abnormality of the cardiovascular system; Abnormality of the dentition; Abnormality of the foot; Abnormality of the ureter; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Asymmetry of the thorax; Autosomal dominant inheritance; Blue sclerae; Cafe-au-lait spot; Cardiomegaly; Cardiomyopathy; Clinodactyly of the 5th finger; Coarse facial features; Congenital posterior urethral valve; Craniofacial disproportion; Craniopharyngioma; Cryptorchidism; Dandy-Walker malformation; Decreased body weight; Delayed cranial suture closure; Delayed skeletal maturation; Diastasis recti; Downturned corners of mouth; Enlarged kidney; Facial asymmetry; Fasting hypoglycemia; Feeding difficulties in infancy; Frontal bossing; Generalized hypotonia; Global developmental delay; Gonadoblastoma; Growth hormone deficiency; Hemihypertrophy; Hepatoblastoma; Hepatocellular carcinoma; Hepatomegaly; Heterogeneous; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Large fontanelles; Low-set ears; Macroglossia; Melanocytic nevus; Micrognathia; Midface retrusion; Motor delay; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Posterior helix pit; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Relative macrocephaly; Renal cortical cysts; Scoliosis; Short distal phalanx of the 5th finger; Short middle phalanx of the 5th finger; Short stature; Small for gestational age; Somatic mutation; Sporadic; Syndactyly; Testicular seminoma; Triangular face; Vesicoureteral reflux; X-linked recessive inheritance
INPP5E9q34.3100%gene with protein product613037JBTS1Abnormality of saccadic eye movements; Abnormality of the foot; Agenesis of cerebellar vermis; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Childhood-onset truncal obesity; Chorioretinal coloboma; Congenital hepatic fibrosis; Delayed speech and language development; Dysgenesis of the cerebellar vermis; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hemifacial spasm; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Highly arched eyebrow; Hyperactivity; Hyperreflexia; Hypoplasia of the brainstem; Impaired smooth pursuit; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Long face; Low-set ears; Macrocephaly; Macroglossia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Neonatal breathing dysregulation; Nephropathy; Nystagmus; Oculomotor apraxia; Optic nerve coloboma; Phenotypic variability; Postaxial hand polydactyly; Prominent forehead; Protruding tongue; Ptosis; Retinal dystrophy; Self-mutilation; Triangular-shaped open mouth; Truncal obesity; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
ITGA317q21.33100%gene with protein product605025MSK18Autosomal recessive inheritance; Decreased glomerular filtration rate; Fine hair; Fragile skin; Gynecomastia; Hypertelorism; Hypoalbuminemia; Macrotia; Microcephaly; Narrow chest; Narrow mouth; Neonatal respiratory distress; Phenotypic variability; Prominent forehead; Proteinuria; Renal insufficiency; Respiratory acidosis; Round face; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Tubular atrophyNephrotic Syndrome
KCNJ111q24.3100%gene with protein product600359Abnormally large globe; Autosomal recessive inheritance; Chondrocalcinosis; Constipation; Dehydration; Diarrhea; Failure to thrive; Fetal polyuria; Fever; Frontal bossing; Generalized muscle weakness; Global developmental delay; Heterogeneous; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hypercalciuria; Hyperchloriduria; Hyperprostaglandinuria; Hypochloremia; Hypokalemia; Hypokalemic metabolic alkalosis; Hyposthenuria; Impaired platelet aggregation; Increased circulating renin level; Increased serum prostaglandin E2; Increased urinary potassium; Intellectual disability; Low-to-normal blood pressure; Macrocephaly; Macrotia; Muscle cramps; Nephrocalcinosis; Osteopenia; Paresthesia; Polydipsia; Polyhydramnios; Polyuria; Premature birth; Prominent forehead; Renal juxtaglomerular cell hypertrophy/hyperplasia; Renal potassium wasting; Renal salt wasting; Seizures; Short stature; Small for gestational age; Tetany; Triangular face; Vomiting
KIDINS2202p25.199.99%gene with protein product615759Astigmatism; Autosomal dominant inheritance; Cerebral atrophy; Deeply set eye; Delayed myelination; Delayed speech and language development; Dilation of lateral ventricles; Esotropia; Full cheeks; Global developmental delay; Hypermetropia; Hyperreflexia; Infantile onset; Intellectual disability; Limb hypertonia; Muscular hypotonia of the trunk; Nystagmus; Prominent forehead; Reduced visual acuity; Spastic paraplegiaObesity
KIF715q26.199.94%gene with protein product611254Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of epiphysis morphology; Abnormality of the sense of smell; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid distal phalanx of the thumb; Bifid uvula; Brachydactyly; Brain atrophy; Broad forehead; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Dandy-Walker malformation; Deeply set eye; Downslanted palpebral fissures; Duplication of phalanx of hallux; Duplication of thumb phalanx; Epicanthus; Failure to thrive; Finger syndactyly; Frontal bossing; Genu valgum; Gingival cleft; Growth delay; Heterogeneous; Hydrocephalus; Hypertelorism; Hypopigmentation of the fundus; Inguinal hernia; Intellectual disability, severe; Joint dislocation; Laryngomalacia; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Malar flattening; Micrognathia; Molar tooth sign on MRI; Multiple epiphyseal dysplasia; Obesity; Osteoarthritis; Pectus carinatum; Pectus excavatum; Phenotypic variability; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Postnatal growth retardation; Preauricular skin tag; Preaxial foot polydactyly; Preaxial hand polydactyly; Preaxial polydactyly; Premature birth; Prominent forehead; Prominent occiput; Rectovaginal fistula; Retrognathia; Short neck; Short nose; Sloping forehead; Submucous cleft hard palate; Toe syndactyly; Tracheal atresia; Triangular mouth; Triphalangeal thumb; Umbilical hernia; Unilateral cleft lip; Ventriculomegaly; Wide anterior fontanelHeterotaxy
LBR1q42.1299.94%gene with protein product60002411 pairs of ribs; Abnormal foot bone ossification; Abnormal joint morphology; Abnormal leukocyte morphology; Abnormal lung lobation; Abnormal ossification involving the femoral head and neck; Abnormal pelvis bone ossification; Abnormal vertebral ossification; Abnormality of cholesterol metabolism; Abnormality of chromosome segregation; Abnormality of the calcaneus; Abnormality of the gastric mucosa; Abnormality of the scapula; Abnormality of the vertebral spinous processes; Absent or minimally ossified vertebral bodies; Absent toenail; Anterior rib punctate calcifications; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Biliary cirrhosis; Bone marrow hypocellularity; Bowing of the long bones; Brachydactyly; Broad palm; Calcinosis; Calcinosis cutis; Calvarial skull defect; Cardiomegaly; Cystic hygroma; Decreased skull ossification; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dysphagia; Elevated alkaline phosphatase; Elevated hepatic transaminases; Epiphyseal stippling; Extramedullary hematopoiesis; Fatigue; Fever; Flared metaphysis; Gastroesophageal reflux; Gastrointestinal hemorrhage; Global developmental delay; Hepatic calcification; Hepatomegaly; Hepatosplenomegaly; High forehead; Horizontal sacrum; Hyperbilirubinemia; Hypertelorism; Hypoplasia of the maxilla; Hypoplastic fingernail; Hypoplastic vertebral bodies; Hyposegmentation of neutrophil nuclei; Intestinal malrotation; Irregular hyperpigmentation; Jaundice; Keratoconjunctivitis sicca; Laryngeal calcification; Lethal skeletal dysplasia; Lip telangiectasia; Long clavicles; Low-set ears; Lymphedema; Macrocephaly; Malar flattening; Mesomelia; Metaphyseal cupping; Micrognathia; Micromelia; Midface retrusion; Misalignment of teeth; Mucosal telangiectasiae; Multiple prenatal fractures; Myalgia; Narrow chest; Neonatal death; Nonimmune hydrops fetalis; Omphalocele; Palmar telangiectasia; Pancreatic islet-cell hyperplasia; Patchy variation in bone mineral density; Platyspondyly; Pleural effusion; Polydactyly; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Preeclampsia; Prominent forehead; Pruritus; Pulmonary hypoplasia; Punctate vertebral calcifications; Raynaud phenomenon; Rhizomelia; Sandal gap; Sclerodactyly; Scleroderma; Sclerosis of skull base; Severe hydrops fetalis; Severe short-limb dwarfism; Short diaphyses; Short phalanx of finger; Short ribs; Skin rash; Skin ulcer; Splenomegaly; Steatorrhea; Sternal punctate calcifications; Stillbirth; Supernumerary vertebral ossification centers; Telangiectasia of the skin; Tracheal calcification; Ulnar deviation of the hand; Xerostomia
LMNA1q22100%gene with protein product150330LMN1, CMD1A, LGMD1B, PRO1, LMNL1Abnormal atrioventricular conduction; Abnormal cellular phenotype; Abnormal electrophysiology of sinoatrial node origin; Abnormal eyebrow morphology; Abnormal hair whorl; Abnormal trabecular bone morphology; Abnormality of circulating leptin level; Abnormality of retinal pigmentation; Abnormality of the Achilles tendon; Abnormality of the cerebral vasculature; Abnormality of the foot; Abnormality of the intrahepatic bile duct; Abnormality of the nail; Abnormality of the pinna; Abnormality of the pulmonary artery; Abnormality of the testis; Abnormality of the voice; Absence of pubertal development; Absence of subcutaneous fat; Absent eyebrow; Absent eyelashes; Acanthosis nigricans; Accelerated atherosclerosis; Achilles tendon contracture; Acroosteolysis of distal phalanges (feet); Acute pancreatitis; Adipose tissue loss; Adrenal hypoplasia; Advanced eruption of teeth; Alopecia; Alopecia universalis; Aminoaciduria; Angina pectoris; Aortic atherosclerosis; Aortic root aneurysm; Aortic valve calcification; Aortic valve stenosis; Aplasia of the middle phalanx of the hand; Aplasia of the phalanges of the 3rd toe; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Areflexia; Arrhythmia; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atherosclerosis; Atrial arrhythmia; Atrial fibrillation; Atrial flutter; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Axonal degeneration/regeneration; Basal cell carcinoma; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brachydactyly; Bradycardia; Broad-based gait; Calcinosis; Calf muscle hypertrophy; Choanal atresia; Chondrocalcinosis; Clinodactyly; Congenital muscular dystrophy; Congenital pseudoarthrosis of the clavicle; Congestive heart failure; Convex nasal ridge; Coronary artery atherosclerosis; Craniofacial disproportion; Cyanosis; Decreased adiponectin level; Decreased calvarial ossification; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Decreased circulating high-density lipoprotein levels; Decreased fertility; Decreased fetal movement; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum leptin; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Delayed puberty; Dental crowding; Dermal atrophy; Dermal translucency; Diabetes mellitus; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Downslanted palpebral fissures; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Emphysema; Enlarged peripheral nerve; Entropion; Epidermal hyperkeratosis; Failure to thrive; Fasting hyperinsulinemia; Fatiguable weakness of proximal limb muscles; Feeding difficulties; Flexion contracture; Foot dorsiflexor weakness; Fragile nails; Full cheeks; Gait disturbance; Generalized amyotrophy; Generalized hyperkeratosis; Generalized lipodystrophy; Generalized osteoporosis; Global developmental delay; Glucose intolerance; Glycosuria; Growth delay; Hepatic steatosis; Hepatomegaly; Heterogeneous; High palate; High pitched voice; Hirsutism; Hydropic placenta; Hypercholesterolemia; Hyperglycemia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperkeratosis; Hyperlipidemia; Hyperlordosis; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypertension; Hypertriglyceridemia; Hypodontia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hyporeflexia; Hypospadias; Hypotrichosis; Increased adipose tissue around the neck; Increased anterioposterior diameter of thorax; Increased facial adipose tissue; Increased intraabdominal fat; Increased intramuscular fat; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intervertebral disc degeneration; Intracranial hemorrhage; Intrauterine growth retardation; Joint stiffness; Juvenile onset; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Labial pseudohypertrophy; Lack of skin elasticity; Large fontanelles; Laryngomalacia; Limb muscle weakness; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Limitation of joint mobility; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Malar flattening; Meningioma; Metaphyseal widening; Micrognathia; Midface retrusion; Mildly elevated creatine phosphokinase; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve calcification; Motor delay; Mottled pigmentation; Multiple joint contractures; Muscle hypertrophy of the lower extremities; Muscular dystrophy; Muscular hypotonia; Myalgia; Myocardial infarction; Myopathy; Nail dysplasia; Narrow face; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Neck muscle weakness; Neoplasm of the breast; Neoplasm of the lung; Neoplasm of the oral cavity; Neoplasm of the skin; Neoplasm of the small intestine; Neoplasm of the thyroid gland; Onion bulb formation; Onset; Osteoarthritis; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Osteosarcoma; Ovarian neoplasm; Overtubulated long bones; Ovoid vertebral bodies; Papillary renal cell carcinoma; Patchy hypo- and hyperpigmentation; Patent ductus arteriosus; Pelvic girdle amyotrophy; Pelvic girdle muscle weakness; Pericardial effusion; Peripheral arterial stenosis; Peripheral axonal atrophy; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Pili torti; Polycystic ovaries; Polyhydramnios; Poor head control; Postnatal growth retardation; Precocious atherosclerosis; Precocious puberty; Premature arteriosclerosis; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature ovarian insufficiency; Premature rupture of membranes; Premature skin wrinkling; Progeroid facial appearance; Progressive; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Prominent superficial veins; Proptosis; Proximal muscle weakness; Proximal muscle weakness in upper limbs; Proximal upper limb muscle hypertrophy; Ptosis; Pulmonary carcinoid tumor; Pulmonary hypoplasia; Reduced subcutaneous adipose tissue; Renal neoplasm; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Reticulated skin pigmentation; Retinal degeneration; Retrognathia; Rocker bottom foot; Round face; Scaling skin; Scapular winging; Scleroderma; Sclerosis of hand bone; Secondary amenorrhea; Sensorineural hearing impairment; Severe muscular hypotonia; Short clavicles; Short distal phalanx of finger; Short nail; Short palm; Short palpebral fissure; Short stature; Short umbilical cord; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Skin erosion; Skin ulcer; Slow progression; Small placenta; Sparse and thin eyebrow; Sparse body hair; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Sparse scalp hair; Spinal rigidity; Squamous cell carcinoma of the skin; Steppage gait; Stiff skin; Stillbirth; Structural foot deformity; Subcutaneous calcification; Submucous cleft hard palate; Sudden cardiac death; Supraventricular arrhythmia; Syncope; Syndactyly; Talipes; Tapering pointed ends of distal finger phalanges; Telangiectasia of the skin; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Type II diabetes mellitus; Upper limb muscle weakness; Ureteral duplication; Variable expressivity; Ventricular arrhythmia; Ventricular hypertrophy; White forelock; Wide nasal bridge; Widely patent fontanelles and sutures; Wormian bones; X-linked inheritance; XanthomatosisHeterotaxy ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
LRP411p11.2100%gene with protein product6042702-3 finger syndactyly; Abnormal cortical bone morphology; Abnormality of the metacarpal bones; Abnormality of the nose; Absent fingernail; Absent toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital onset; Craniofacial hyperostosis; Curved distal phalanges of the hand; Cutaneous finger syndactyly; Diaphyseal thickening; Difficulty walking; Downslanted palpebral fissures; Facial palsy; Feeding difficulties; Finger syndactyly; Fingernail dysplasia; Frontal bossing; Hearing impairment; Hypertelorism; Hypoplasia of the radius; Hypoplasia of the ulna; Hyporeflexia; Increased bone mineral density; Macrocephaly; Mandibular prognathia; Micrognathia; Nail dysplasia; Prominent forehead; Ptosis; Radioulnar synostosis; Renal agenesis; Renal hypoplasia; Sensorineural hearing impairment; Short finger; Short thumb; Syndactyly; Synostosis of carpal bones; Tall stature; Toe syndactyly
LRPPRC2p2199.97%gene with protein product607544LSFCAnteverted nares; Ataxia; Autosomal recessive inheritance; CNS demyelination; Delayed speech and language development; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Highly arched eyebrow; Hirsutism; Hyperglycemia; Hypertelorism; Hypoglycemia; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased serum lactate; Infantile onset; Lactic acidosis; Low anterior hairline; Malar flattening; Microvesicular hepatic steatosis; Midface retrusion; Peripheral demyelination; Prominent forehead; Strabismus; Tachypnea; Tremor; Wide nasal bridge
MAB21L24q31.3100%gene with protein product604357Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Coloboma; Ectopia pupillae; Epicanthus; Long eyelashes; Microphthalmia; Nystagmus; Periorbital fullness; Prominent forehead; Strabismus
MED12Xq13.199.99%gene with protein product300188TNRC11, FGS1Abnormal heart morphology; Abnormality of the genitourinary system; Abnormality of the nasopharynx; Abnormality of the rib cage; Abnormality of the sternum; Abnormally folded helix; Agenesis of corpus callosum; Aggressive behavior; Anal atresia; Anal stenosis; Anteriorly placed anus; Aortic root aneurysm; Aplasia/Hypoplasia of the corpus callosum; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad hallux; Broad thumb; Bulbous nose; Cafe-au-lait spot; Camptodactyly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly; Coarse facial features; Constipation; Cryptorchidism; Decreased body weight; Deep philtrum; Delayed closure of the anterior fontanelle; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Downslanted palpebral fissures; Emotional lability; Epicanthus; Facial wrinkling; Feeding difficulties; Fine hair; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Heterotopia; High forehead; High palate; High pitched voice; Hydrocephalus; Hyperactivity; Hypertelorism; Hypoplasia of the maxilla; Hypospadias; Impaired social interactions; Inguinal hernia; Intellectual disability; Intestinal malrotation; Joint contracture of the hand; Joint hyperflexibility; Joint hypermobility; Joint laxity; Long face; Long nose; Long philtrum; Low frustration tolerance; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Macroorchidism; Micrognathia; Microtia, first degree; Motor delay; Multiple joint contractures; Muscular hypotonia; Narrow face; Narrow mouth; Narrow nasal bridge; Narrow palate; Nasal speech; Neonatal hypotonia; Neurological speech impairment; Obsessive-compulsive behavior; Open mouth; Partial agenesis of the corpus callosum; Pectus excavatum; Plagiocephaly; Postnatal macrocephaly; Prominent fingertip pads; Prominent forehead; Prominent nasal bridge; Prominent nose; Psychosis; Ptosis; Pyloric stenosis; Radial deviation of finger; Sacral dimple; Scoliosis; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Short neck; Short philtrum; Short stature; Single transverse palmar crease; Skin tags; Smooth philtrum; Sparse hair; Split hand; Strabismus; Syndactyly; Thick lower lip vermilion; Thin upper lip vermilion; Thin vermilion border; Umbilical hernia; Ventricular septal defect; Wide anterior fontanel; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
MED12Xq13.199.99%gene with protein product300188TNRC11, FGS1Abnormal heart morphology; Abnormality of the genitourinary system; Abnormality of the nasopharynx; Abnormality of the rib cage; Abnormality of the sternum; Abnormally folded helix; Agenesis of corpus callosum; Aggressive behavior; Anal atresia; Anal stenosis; Anteriorly placed anus; Aortic root aneurysm; Aplasia/Hypoplasia of the corpus callosum; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad hallux; Broad thumb; Bulbous nose; Cafe-au-lait spot; Camptodactyly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly; Coarse facial features; Constipation; Cryptorchidism; Decreased body weight; Deep philtrum; Delayed closure of the anterior fontanelle; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Downslanted palpebral fissures; Emotional lability; Epicanthus; Facial wrinkling; Feeding difficulties; Fine hair; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Heterotopia; High forehead; High palate; High pitched voice; Hydrocephalus; Hyperactivity; Hypertelorism; Hypoplasia of the maxilla; Hypospadias; Impaired social interactions; Inguinal hernia; Intellectual disability; Intestinal malrotation; Joint contracture of the hand; Joint hyperflexibility; Joint hypermobility; Joint laxity; Long face; Long nose; Long philtrum; Low frustration tolerance; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Macroorchidism; Micrognathia; Microtia, first degree; Motor delay; Multiple joint contractures; Muscular hypotonia; Narrow face; Narrow mouth; Narrow nasal bridge; Narrow palate; Nasal speech; Neonatal hypotonia; Neurological speech impairment; Obsessive-compulsive behavior; Open mouth; Partial agenesis of the corpus callosum; Pectus excavatum; Plagiocephaly; Postnatal macrocephaly; Prominent fingertip pads; Prominent forehead; Prominent nasal bridge; Prominent nose; Psychosis; Ptosis; Pyloric stenosis; Radial deviation of finger; Sacral dimple; Scoliosis; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Short neck; Short philtrum; Short stature; Single transverse palmar crease; Skin tags; Smooth philtrum; Sparse hair; Split hand; Strabismus; Syndactyly; Thick lower lip vermilion; Thin upper lip vermilion; Thin vermilion border; Umbilical hernia; Ventricular septal defect; Wide anterior fontanel; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
MED13L12q24.21100%gene with protein product608771THRAP2Ataxia; Autism; Autosomal dominant inheritance; Brachycephaly; Bulbous nose; Clinodactyly; Coloboma; Cryptorchidism; Depressed nasal bridge; Dysarthria; Everted lower lip vermilion; Frontal bossing; Generalized hypotonia; Global developmental delay; Hypertelorism; Incomplete penetrance; Infantile onset; Intellectual disability, moderate; Low-set ears; Macroglossia; Macrotia; Motor delay; Narrow forehead; Open mouth; Patent foramen ovale; Plagiocephaly; Poor speech; Prominent forehead; Recurrent infections; Round face; Short neck; Strabismus; Transposition of the great arteries; Triangular face; Upslanted palpebral fissure; Wide mouth
MID1Xp22100%gene with protein product300552Abnormal heart morphology; Abnormality of the nasopharynx; Agenesis of corpus callosum; Anal atresia; Anteverted nares; Aspiration; Cleft palate; Cleft upper lip; Cryptorchidism; Dysphagia; Esophageal atresia; Frontal bossing; Gastroesophageal reflux; Global developmental delay; Heterogeneous; High palate; Hypertelorism; Hypospadias; Posterior pharyngeal cleft; Prominent forehead; Smooth philtrum; Telecanthus; Thin upper lip vermilion; Tracheoesophageal fistula; Wide nasal bridge; X-linked recessive inheritanceVACTERL Association
MYH317p13.1100%gene with protein product160720Abnormal auditory evoked potentials; Abnormality of the dentition; Abnormality of the ear; Abnormality of the hip bone; Abnormality of the skin; Absent phalangeal crease; Adducted thumb; Aplasia/Hypoplasia of the radius; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Blepharophimosis; Breech presentation; Calcaneovalgus deformity; Camptodactyly; Camptodactyly of finger; Cerebellar atrophy; Chin with H-shaped crease; Cryptorchidism; Deeply set eye; Depressed nasal ridge; Dimple chin; Distal arthrogryposis; Downslanted palpebral fissures; Elbow flexion contracture; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Fever; Flat face; Flexion contracture of toe; Hearing impairment; Hemivertebrae; High palate; Hip contracture; Hip dislocation; Hypertelorism; Hypoplasia of the brainstem; Inguinal hernia; Joint contracture of the hand; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Long philtrum; Low-set, posteriorly rotated ears; Malar flattening; Malignant hyperthermia; Mandibular prognathia; Mask-like facies; Metatarsus adductus; Microcephaly; Micrognathia; Multiple pterygia; Muscle weakness; Narrow face; Narrow mouth; Nasal speech; Neurological speech impairment; Overlapping fingers; Postnatal growth retardation; Prenatal movement abnormality; Prominent forehead; Prominent nasolabial fold; Protruding ear; Ptosis; Rocker bottom foot; Round ear; Scoliosis; Seizures; Short neck; Short nose; Short stature; Shoulder flexion contracture; Small for gestational age; Spina bifida occulta; Strabismus; Talipes; Talipes equinovarus; Tarsal synostosis; Telecanthus; Triangular face; Ulnar deviation of finger; Ulnar deviation of the hand or of fingers of the hand; Ulnar deviation of the wrist; Underdeveloped nasal alae; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Whistling appearance; Wide nasal bridge
NAA10Xq2899.97%gene with protein product300013ARD1, ARD1AAbnormal palmar dermatoglyphics; Abnormality of dental morphology; Abnormality of the dentition; Abnormality of the nares; Abnormality of the pinna; Aganglionic megacolon; Agenesis of maxillary lateral incisor; Aggressive behavior; Anal atresia; Anophthalmia; Atrial septal defect; Bicuspid aortic valve; Blindness; Broad hallux; Camptodactyly; Camptodactyly of finger; Cerebral atrophy; Chorioretinal coloboma; Ciliary body coloboma; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Coarse facial features; Complete duplication of thumb phalanx; Congenital onset; Cryptorchidism; Deep philtrum; Delayed cranial suture closure; Dental crowding; Depressed nasal bridge; Down-sloping shoulders; Downslanted palpebral fissures; Epicanthus; Everted upper lip vermilion; External ear malformation; Facial wrinkling; Finger syndactyly; Generalized hypotonia; Glaucoma; Global developmental delay; Growth delay; Hearing impairment; High palate; High, narrow palate; Hydronephrosis; Hydroureter; Hypertonia; Hypospadias; Inguinal hernia; Intellectual disability; Iris coloboma; Joint contracture of the hand; Kyphoscoliosis; Long eyelashes; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrotia; Microcephaly; Microcornea; Microphthalmia; Microretrognathia; Minimal subcutaneous fat; Motor delay; Narrow chest; Optic nerve coloboma; Oral cleft; Overfolded helix; Pectus excavatum; Postnatal growth retardation; Prominent forehead; Proptosis; Ptosis; Pulmonary artery stenosis; Pyloric stenosis; Radial deviation of finger; Rectal prolapse; Recurrent infections; Recurrent otitis media; Redundant skin; Renal hypoplasia; Renal hypoplasia/aplasia; Seizures; Self-mutilation; Short clavicles; Short columella; Short stature; Sparse and thin eyebrow; Spastic diplegia; Stereotypy; Supraventricular tachycardia; Syndactyly; Thick upper lip vermilion; Thin upper lip vermilion; Torsade de pointes; Underdeveloped nasal alae; Variable expressivity; Ventricular extrasystoles; Ventricular septal defect; Ventricular tachycardia; Webbed neck; Wide nasal bridge; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
NALCN13q32.3-q33.100%gene with protein product611549VGCNL1Abnormal pyramidal signs; Abnormality of the dentition; Abnormality of the hip bone; Adducted thumb; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Brachycephaly; Camptodactyly; Camptodactyly of finger; Congenital contracture; Congenital onset; Constipation; Cryptorchidism; Decreased motor nerve conduction velocity; Deeply set eye; Delayed speech and language development; Depressed nasal ridge; Dimple chin; Downslanted palpebral fissures; Elbow flexion contracture; Enlarged naris; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hearing impairment; High palate; Hip contracture; Hyperreflexia; Hypertelorism; Inguinal hernia; Joint stiffness; Knee flexion contracture; Long philtrum; Low-set ears; Macrotia; Malignant hyperthermia; Microcephaly; Micrognathia; Muscular hypotonia of the trunk; Narrow face; Narrow mouth; Nasal speech; Neurological speech impairment; Nystagmus; Optic atrophy; Overlapping fingers; Pectus carinatum; Poor eye contact; Postnatal growth retardation; Prenatal movement abnormality; Progressive; Prominent forehead; Protruding ear; Ptosis; Pursed lips; Respiratory insufficiency; Round ear; Scoliosis; Seizures; Short columella; Short neck; Short nose; Short stature; Skeletal muscle atrophy; Slender nose; Smooth philtrum; Spastic tetraplegia; Strabismus; Talipes; Talipes equinovarus; Tarsal synostosis; Thin upper lip vermilion; Triangular face; Ulnar deviation of finger; Ulnar deviation of the wrist; Umbilical hernia; Underdeveloped nasal alae; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge
NANS9q22.33100%gene with protein product605202Abnormality of the pinna; Abnormality of the skin; Ataxia; Autosomal recessive inheritance; Brachycephaly; Carpal bone hypoplasia; Coarse facial features; Epicanthus; Flared metaphysis; Flat acetabular roof; Generalized hypotonia; Hirsutism; Intellectual disability, severe; Irregular epiphyses; Irregular vertebral endplates; Long fibula; Low anterior hairline; Low posterior hairline; Metaphyseal irregularity; Microcephaly; Narrow iliac wings; Nystagmus; Platyspondyly; Posterior scalloping of vertebral bodies; Prominent forehead; Short femoral neck; Short neck; Small epiphyses; Spondyloepimetaphyseal dysplasia; Synophrys; Thick lower lip vermilion; Wide nose
NFIX19p13.1393.01%gene with protein product164005Accelerated skeletal maturation; Advanced eruption of teeth; Agenesis of corpus callosum; Anteverted nares; Anxiety; Astigmatism; Atlantoaxial dislocation; Atrial septal defect; Autosomal dominant inheritance; Blue sclerae; Bowing of the long bones; Bruising susceptibility; Bullet-shaped middle phalanges of the hand; Cerebral atrophy; Choanal atresia; Choanal stenosis; Conductive hearing impairment; Coxa valga; Cutis marmorata; Death in childhood; Decreased body weight; Delayed speech and language development; Depressed nasal bridge; Distal widening of metacarpals; Downslanted palpebral fissures; Eclabion; Everted lower lip vermilion; Failure to thrive; Frontal bossing; Generalized hirsutism; Generalized hypotonia; Gingival overgrowth; Glossoptosis; Hearing impairment; High forehead; Hypermetropia; Hypertelorism; Hypoplasia of the odontoid process; Increased susceptibility to fractures; Intellectual disability; Irregular dentition; Joint hyperflexibility; Large sternal ossification centers; Laryngomalacia; Long face; Long fingers; Low-set ears; Macrocephaly; Macrogyria; Malar flattening; Mandibular prognathia; Midface retrusion; Motor delay; Narrow face; Narrow mouth; Nystagmus; Obstructive sleep apnea; Omphalocele; Open mouth; Overfolded helix; Overgrowth; Patent ductus arteriosus; Pectus excavatum; Prominence of the premaxilla; Prominent forehead; Proptosis; Protruding tongue; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Reduced bone mineral density; Retrognathia; Scoliosis; Shallow orbits; Short distal phalanx of finger; Short mandibular rami; Short nose; Short philtrum; Short sternum; Slender long bone; Sporadic; Strabismus; Synophrys; Tall stature; Thick eyebrow; Thin skin; Umbilical hernia; Ventriculomegaly
NFIX19p13.1393.01%gene with protein product164005Accelerated skeletal maturation; Advanced eruption of teeth; Agenesis of corpus callosum; Anteverted nares; Anxiety; Astigmatism; Atlantoaxial dislocation; Atrial septal defect; Autosomal dominant inheritance; Blue sclerae; Bowing of the long bones; Bruising susceptibility; Bullet-shaped middle phalanges of the hand; Cerebral atrophy; Choanal atresia; Choanal stenosis; Conductive hearing impairment; Coxa valga; Cutis marmorata; Death in childhood; Decreased body weight; Delayed speech and language development; Depressed nasal bridge; Distal widening of metacarpals; Downslanted palpebral fissures; Eclabion; Everted lower lip vermilion; Failure to thrive; Frontal bossing; Generalized hirsutism; Generalized hypotonia; Gingival overgrowth; Glossoptosis; Hearing impairment; High forehead; Hypermetropia; Hypertelorism; Hypoplasia of the odontoid process; Increased susceptibility to fractures; Intellectual disability; Irregular dentition; Joint hyperflexibility; Large sternal ossification centers; Laryngomalacia; Long face; Long fingers; Low-set ears; Macrocephaly; Macrogyria; Malar flattening; Mandibular prognathia; Midface retrusion; Motor delay; Narrow face; Narrow mouth; Nystagmus; Obstructive sleep apnea; Omphalocele; Open mouth; Overfolded helix; Overgrowth; Patent ductus arteriosus; Pectus excavatum; Prominence of the premaxilla; Prominent forehead; Proptosis; Protruding tongue; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Reduced bone mineral density; Retrognathia; Scoliosis; Shallow orbits; Short distal phalanx of finger; Short mandibular rami; Short nose; Short philtrum; Short sternum; Slender long bone; Sporadic; Strabismus; Synophrys; Tall stature; Thick eyebrow; Thin skin; Umbilical hernia; Ventriculomegaly
NPR29p13.399.95%gene with protein product108961ANPRB, NPRB, AMDMAcromesomelia; Arachnodactyly; Autosomal dominant inheritance; Autosomal recessive inheritance; Beaking of vertebral bodies; Bowing of the long bones; Brachydactyly; Broad finger; Broad hallux; Broad metacarpals; Broad metatarsal; Broad phalanx; Cone-shaped epiphyses of the phalanges of the hand; Depressed nasal bridge; Disproportionate short stature; Dolichocephaly; Flared metaphysis; Frontal bossing; Hyperlordosis; Hypoplasia of the radius; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphosis; Limited elbow extension; Long hallux; Lower thoracic kyphosis; Lumbar hyperlordosis; Osteopenia; Ovoid vertebral bodies; Prominent forehead; Proportionate short stature; Radial bowing; Redundant skin on fingers; Scoliosis; Short metacarpal; Short metatarsal; Short nail; Short nose; Short phalanx of finger; Short toe; Sprengel anomaly; Tall stature; Thoracolumbar interpediculate narrowness; Thoracolumbar kyphosis; Vertebral wedging
NPR29p13.399.95%gene with protein product108961ANPRB, NPRB, AMDMAcromesomelia; Arachnodactyly; Autosomal dominant inheritance; Autosomal recessive inheritance; Beaking of vertebral bodies; Bowing of the long bones; Brachydactyly; Broad finger; Broad hallux; Broad metacarpals; Broad metatarsal; Broad phalanx; Cone-shaped epiphyses of the phalanges of the hand; Depressed nasal bridge; Disproportionate short stature; Dolichocephaly; Flared metaphysis; Frontal bossing; Hyperlordosis; Hypoplasia of the radius; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphosis; Limited elbow extension; Long hallux; Lower thoracic kyphosis; Lumbar hyperlordosis; Osteopenia; Ovoid vertebral bodies; Prominent forehead; Proportionate short stature; Radial bowing; Redundant skin on fingers; Scoliosis; Short metacarpal; Short metatarsal; Short nail; Short nose; Short phalanx of finger; Short toe; Sprengel anomaly; Tall stature; Thoracolumbar interpediculate narrowness; Thoracolumbar kyphosis; Vertebral wedging
NRAS1p13.299.99%gene with protein product164790Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of metabolism/homeostasis; Abnormality of the spleen; Abnormality of toe; Abnormality of vision; Adenoma sebaceum; Alopecia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Arrhythmia; Asymmetric growth; Asymmetry of the thorax; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Basal cell carcinoma; Biparietal narrowing; Broad forehead; Broad nasal tip; Cavernous hemangioma; Coarctation of aorta; Coarse hair; Coloboma; Congenital giant melanocytic nevus; Congenital onset; Cranial asymmetry; Cranial nerve paralysis; Cryptorchidism; Curly hair; Cutaneous melanoma; Cystic hygroma; Death in infancy; Decreased lymphocyte apoptosis; Deep philtrum; Delayed skeletal maturation; Downslanted palpebral fissures; Dysarthria; EEG abnormality; Enlarged thorax; Everted lower lip vermilion; Facial asymmetry; Feeding difficulties in infancy; Follicular hyperplasia; Follicular thyroid carcinoma; Frontal bossing; Full cheeks; Generalized hirsutism; Generalized hypotonia; Genu recurvatum; Hemangioma; Hemimegalencephaly; Hemolytic anemia; Hepatomegaly; Hereditary nonpolyposis colorectal carcinoma; High forehead; High palate; Horseshoe kidney; Hyperkeratosis; Hyperreflexia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Ichthyosis; Increased antibody level in blood; Intellectual disability; Iris coloboma; Irregular hyperpigmentation; Joint hyperflexibility; Kyphoscoliosis; Leukemia; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphoma; Lymphoproliferative disorder; Melanocytic nevus; Melanoma; Mental deterioration; Micrognathia; Microphthalmia; Midface retrusion; Monocytosis; Muscle weakness; Muscular hypotonia; Narrow nasal ridge; Neoplasm of the stomach; Neutropenia; Nevus sebaceous; Non-medullary thyroid carcinoma; Numerous congenital melanocytic nevi; Numerous nevi; Open mouth; Osteopenia; Overgrowth; Pancytopenia; Pectus carinatum; Pectus excavatum; Periorbital fullness; Plagiocephaly; Porencephalic cyst; Prominence of the premaxilla; Prominent forehead; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Recurrent fractures; Reduced tendon reflexes; Renal cell carcinoma; Round face; Scoliosis; Seizures; Short nose; Short stature; Somatic mosaicism; Splenomegaly; Sporadic; Strabismus; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Uterine leiomyosarcoma; Vertebral segmentation defect; Webbed neck; Wide intermamillary distance
NSD15q35.3100%gene with protein product606681STOAbnormal glucose tolerance; Abnormality of immune system physiology; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormally low-pitched voice; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Advanced eruption of teeth; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Atrial septal defect; Autosomal dominant inheritance; Behavioral abnormality; Broad foot; Broad forehead; Broad thumb; Camptodactyly of finger; Cardiomegaly; Cardiomyopathy; Cavum septum pellucidum; Coarse facial features; Conductive hearing impairment; Cryptorchidism; Dandy-Walker malformation; Deep philtrum; Deep-set nails; Delayed skeletal maturation; Depressed nasal ridge; Diastasis recti; Dolichocephaly; Downslanted palpebral fissures; Enlarged cisterna magna; Enlarged kidney; Expressive language delay; Feeding difficulties in infancy; Fine hair; Frontal bossing; Genu valgum; Global developmental delay; Gonadoblastoma; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; High anterior hairline; High forehead; High palate; High, narrow palate; Hoarse voice; Hypermetropia; Hyperreflexia; Hypertelorism; Hypoglycemia; Hypoplastic toenails; Inguinal hernia; Intellectual disability; Joint laxity; Joint stiffness; Large fontanelles; Large hands; Long foot; Long philtrum; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Macrotia; Mandibular prognathia; Microcephaly; Micrognathia; Midface retrusion; Muscular hypotonia; Myopia; Narrow palate; Neonatal hypoglycemia; Neonatal hypotonia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Nystagmus; Obesity; Omphalocele; Otitis media; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Pes planus; Pointed chin; Poor coordination; Posterior helix pit; Precocious puberty; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Redundant skin; Renal cortical cysts; Retrognathia; Round face; Scoliosis; Seizures; Short stature; Small nail; Spasticity; Specific learning disability; Sporadic; Strabismus; Tall stature; Thin nail; Ventricular septal defect; Ventriculomegaly; Vesicoureteral refluxObesity
OPHN1Xq1299.97%gene with protein product300127MRX60Attention deficit hyperactivity disorder; Autism; Cerebellar hypoplasia; Cryptorchidism; Deeply set eye; Delayed speech and language development; Disorganization of the anterior cerebellar vermis; Dysmetria; Enlarged cisterna magna; Frontal bossing; Gait ataxia; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypotelorism; Infantile onset; Intellectual disability; Long face; Long nose; Macrocephaly; Macrotia; Mandibular prognathia; Micropenis; Microphallus; Muscular hypotonia; Neurological speech impairment; Nystagmus; Prominent forehead; Prominent supraorbital ridges; Retrocerebellar cyst; Scrotal hypoplasia; Seizures; Short philtrum; Spasticity; Strabismus; Thin upper lip vermilion; X-linked recessive inheritanceDisorders of Sex Development
PAM1616p13.399.99%gene with protein product614336Anteverted nares; Autosomal recessive inheritance; Bell-shaped thorax; Cardiomegaly; Deep philtrum; Delayed skeletal maturation; Depressed nasal bridge; Frontal bossing; Global developmental delay; Hypoplastic ischia; Iliac crest serration; Large fontanelles; Low-set ears; Metaphyseal cupping; Micromelia; Microtia; Muscular hypotonia of the trunk; Narrow chest; Prominent forehead; Pulmonary arterial hypertension; Round face; Severe platyspondyly; Short long bone; Short neck; Short nose; Short ribs; Short stature; Small for gestational age; Spondylometaphyseal dysplasia; Squared iliac bones; Tachypnea; Wide nose; Wormian bones
PDGFRB5q3299.97%gene with protein product173410PDGFRAbnormality of connective tissue; Abnormality of neuronal migration; Abnormality of the hair; Abnormality of the metaphysis; Abnormality of the musculature; Abnormality of the skull; Abnormality of the thorax; Adult onset; Athetosis; Autosomal dominant inheritance; Basal ganglia calcification; Bone cyst; Brachydactyly; Bradykinesia; Calcification of the small brain vessels; Cerebral calcification; Chondrocalcinosis; Chorea; Corneal opacity; Delayed cranial suture closure; Delayed eruption of teeth; Delayed skeletal maturation; Dense calcifications in the cerebellar dentate nucleus; Depressivity; Downslanted palpebral fissures; Dysarthria; Dysdiadochokinesis; Dystonia; Eosinophilia; Fibroma; Fragile skin; Gait disturbance; Gingival fibromatosis; Growth abnormality; Hepatomegaly; Hyperextensible skin; Hyperkeratosis; Hypermetropia; Hyperreflexia; Hypoplasia of the maxilla; Increased thyroid-stimulating hormone level; Intrauterine growth retardation; Limb dysmetria; Lipoatrophy; Long foot; Malignant eosinophil proliferation; Mask-like facies; Memory impairment; Mental deterioration; Microcephaly; Micrognathia; Midface retrusion; Myeloproliferative disorder; Narrow nose; Neoplasm of the lung; Neoplasm of the skin; Osteolytic defects of the phalanges of the hand; Osteopenia; Overgrowth; Parkinsonism; Pointed chin; Postural instability; Progressive; Progressive neurologic deterioration; Prominent forehead; Prominent nasal bridge; Prominent supraorbital ridges; Proptosis; Psychosis; Ptosis; Rigidity; Seizures; Sensorineural hearing impairment; Slender long bone; Sparse hair; Subcutaneous hemorrhage; Subcutaneous nodule; Thin calvarium; Thin skin; Thin upper lip vermilion; Thin vermilion border; Thoracolumbar scoliosis; Thrombocytopenia; Tremor; Urinary incontinence; Ventriculomegaly; Wide nasal bridge
PEPD19q13.1199.96%gene with protein product613230Abnormal facial shape; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the hip bone; Abnormality of the middle ear; Anemia; Arachnodactyly; Asthma; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Carious teeth; Chronic lung disease; Convex nasal ridge; Crusting erythematous dermatitis; Cutaneous photosensitivity; Depressed nasal bridge; Depressed nasal ridge; Diffuse telangiectasia; Dry skin; Erythema; Generalized hirsutism; Genu valgum; Global developmental delay; Hearing impairment; Hepatomegaly; Hypertelorism; Low anterior hairline; Low posterior hairline; Micrognathia; Palmoplantar keratoderma; Papule; Petechiae; Prolonged neonatal jaundice; Prominent forehead; Proptosis; Pruritus; Ptosis; Recurrent pneumonia; Recurrent respiratory infections; Short nose; Skin ulcer; Splenomegaly; Systemic lupus erythematosus; Thin skin; Thrombocytopenia; Visual impairment; White forelock
PIGL17p11.2100%gene with protein product605947Abnormal dermatoglyphics; Abnormality of epiphysis morphology; Abnormality of the outer ear; Acute lymphoblastic leukemia; Aplasia/Hypoplasia of the nipples; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the phalanges of the toes; Aplastic clavicles; Autosomal recessive inheritance; Brachycephaly; Broad-based gait; Cerebral atrophy; Cleft palate; Clinodactyly of the 5th finger; Conductive hearing impairment; Corneal opacity; Depressed nasal bridge; Depressed nasal ridge; Duplicated collecting system; Epicanthus; Erythema; Fine hair; Frontal bossing; Generalized hypotonia; Hearing impairment; Hydronephrosis; Hypertelorism; Hypodontia; Hypoplastic nipples; Ichthyosis; Increased number of teeth; Intellectual disability; Joint contracture of the hand; Large for gestational age; Large hands; Long foot; Low-set nipples; Microdontia; Overfolded helix; Palmoplantar hyperkeratosis; Peripheral pulmonary artery stenosis; Prominent forehead; Ptosis; Pulmonary valve atresia; Retinal coloboma; Seizures; Short foot; Short palm; Short philtrum; Sparse hair; Strabismus; Tall stature; Tetralogy of Fallot; Thick lower lip vermilion; Thick vermilion border; Transposition of the great arteries; Upslanted palpebral fissure; Ureteropelvic junction obstruction; Ventricular septal defect; Violent behavior; Webbed neck; Wide mouth; Wide nasal bridge; Widely spaced teethEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
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
PLA2G622q13.1100%gene with protein product603604Abnormal pyramidal signs; Abnormality of metabolism/homeostasis; Abnormality of visual evoked potentials; Aggressive behavior; Ataxia; Autosomal recessive inheritance; Babinski sign; Bradykinesia; Cachexia; Cerebellar atrophy; Cerebral atrophy; Childhood onset; Chorea; Clumsiness; Delayed speech and language development; Depressivity; Developmental regression; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Elevated serum creatine phosphokinase; EMG: chronic denervation signs; Emotional lability; Feeding difficulties; Frontal bossing; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized hypotonia; Generalized muscle weakness; Gliosis; Global brain atrophy; Global developmental delay; Hearing impairment; Hyperactivity; Hyperreflexia; Impaired smooth pursuit; Impulsivity; Infantile onset; Intellectual disability; Intention tremor; Mental deterioration; Micrognathia; Morphological abnormality of the pyramidal tract; Muscular hypotonia; Neurodegeneration; Neurofibrillary tangles; Neuronal loss in central nervous system; Nystagmus; Optic atrophy; Parkinsonism; Personality changes; Phenotypic variability; Postural instability; Progressive; Prominent forehead; Rapidly progressive; Rigidity; Seizures; Short attention span; Short nose; Spastic tetraplegia; Spasticity; Strabismus; Supranuclear gaze palsy; Talipes calcaneovalgus; Tremor; Unsteady gait; Visual impairment; Visual loss
PMM216p13.2100%gene with protein product601785CDG1Abnormal subcutaneous fat tissue distribution; Abnormality of the amniotic fluid; Ataxia; Autosomal recessive inheritance; Cardiomyopathy; Depressed nasal bridge; Diarrhea; Elevated hepatic transaminases; Esotropia; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Generalized hypotonia; Global developmental delay; Hepatic fibrosis; Hepatic steatosis; Hepatomegaly; Hypergonadotropic hypogonadism; Hypoalbuminemia; Hypocholesterolemia; Hyporeflexia; Hypothyroidism; IgA deficiency; IgG deficiency; Inverted nipples; Kyphosis; Macrotia; Microcephaly; Muscle weakness; Nephrotic syndrome; Nonimmune hydrops fetalis; Nystagmus; Olivopontocerebellar hypoplasia; Osteopenia; Pericardial effusion; Polyneuropathy; Premature ovarian insufficiency; Prolonged partial thromboplastin time; Prolonged prothrombin time; Prominent forehead; Proteinuria; Proximal tubulopathy; Reduced antithrombin III activity; Reduced factor XI activity; Renal cyst; Rod-cone dystrophy; Seizures; Stroke-like episode; Thin upper lip vermilion; Thrombocytosis; Type I transferrin isoform profile; Vomiting
POC1A3p21.2100%gene with protein product614783WDR51AAutosomal recessive inheritance; Brachydactyly; Clinodactyly; Cone-shaped epiphysis; Disproportionate short stature; High pitched voice; Hypoplastic pelvis; Hypoplastic sacrum; Long face; Macrocephaly; Mandibular prognathia; Microcephaly; Microtia; Nail dysplasia; Oligospermia; Pointed chin; Prominent forehead; Prominent nose; Short distal phalanx of finger; Short femoral neck; Short metacarpal; Short metatarsal; Small for gestational age; Small hand; Small nail; Sparse hair; Triangular face; Waddling gaitHeterotaxy
POU1F13p11.299.93%gene with protein product173110PIT1Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Anteverted nares; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Decreased circulating ACTH level; Decreased testicular size; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Fatigue; Feeding difficulties; Frontal bossing; Generalized hypotonia; Global developmental delay; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypotension; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Macroglossia; Malar flattening; Midface retrusion; Muscular hypotonia; Oral cleft; Osteopenia; Pituitary hypothyroidism; Prolonged neonatal jaundice; Prominent forehead; Septo-optic dysplasia; Severe postnatal growth retardation; Short nose; Short stature; Sleep disturbance; Umbilical hernia
PPP1CB2p23.299.68%gene with protein product600590Arnold-Chiari type I malformation; Autosomal dominant inheritance; Broad neck; Cafe-au-lait spot; Coarctation of aorta; Craniosynostosis; Cryptorchidism; Dandy-Walker malformation; Delayed skeletal maturation; Delayed speech and language development; Dermal translucency; Downslanted palpebral fissures; Failure to thrive; Freckling; Generalized hypotonia; Global developmental delay; High palate; Hypertelorism; Joint hypermobility; Low-set ears; Mitral regurgitation; Optic nerve hypoplasia; Overfolded helix; Patent ductus arteriosus; Patent foramen ovale; Peripheral pulmonary artery stenosis; Posteriorly rotated ears; Prominent forehead; Pulmonic stenosis; Right bundle branch block; Short neck; Short stature; Slow-growing hair; Sparse hair; Thickened helices; Ventricular septal defect; Webbed neck
PRKD114q12100%gene with protein product605435PRKCMAutosomal dominant inheritance; Broad thumb; Delayed speech and language development; Depressed nasal bridge; Dry skin; Feeding difficulties; Fragile nails; Generalized hypotonia; Global developmental delay; Microcephaly; Microdontia; Nystagmus; Premature loss of primary teeth; Prominent forehead; Prominent nasal bridge; Scoliosis; Sparse scalp hair; Syndactyly; Thin skin; Widely spaced teeth
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
PURA5q31.399.62%gene with protein product600473Absent speech; Autosomal dominant inheritance; CNS hypomyelination; Delayed myelination; Feeding difficulties; Global developmental delay; High palate; Intellectual disability; Muscular hypotonia; Myoclonus; Myopathic facies; Neonatal hypotonia; Nystagmus; Open mouth; Prominent forehead; Respiratory insufficiency; Seizures; Strabismus; Variable expressivity
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
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
RPS6KA3Xp22.1298.52%gene with protein product300075MRX19, CLSAbnormal diaphysis morphology; Abnormal form of the vertebral bodies; Abnormality of dental morphology; Anteverted nares; Bifid sternum; Brachydactyly; Broad finger; Broad nasal tip; Broad palm; Coarse facial features; Coarse hair; Coxa valga; Craniofacial hyperostosis; Cutis laxa; Cutis marmorata; Decreased body weight; Delayed closure of the anterior fontanelle; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Dental malocclusion; Depressed nasal bridge; Downslanted palpebral fissures; Drumstick terminal phalanges; Epicanthus; Everted lower lip vermilion; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Generalized hypotonia; High palate; Highly arched eyebrow; Hyperconvex fingernails; Hyperextensibility of the finger joints; Hypertelorism; Hypodontia; Hypoplasia of the maxilla; Hypoplastic fingernail; Inguinal hernia; Intellectual disability; Joint hyperflexibility; Kyphoscoliosis; Kyphosis; Large hands; Long foot; Lumbar kyphosis; Mandibular prognathia; Microcephaly; Mitral regurgitation; Motor delay; Muscular hypotonia; Narrow iliac wings; Narrow palate; Neurological speech impairment; Open mouth; Pectus carinatum; Pectus excavatum; Pes planus; Progressive spasticity; Prominent forehead; Prominent supraorbital ridges; Protruding ear; Pseudoepiphyses of the metacarpals; Rectal prolapse; Redundant skin; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short distal phalanx of finger; Short metacarpal; Short stature; Single transverse palmar crease; Sporadic; Tapered finger; Telecanthus; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Thick nasal septum; Thickened calvaria; Uterine prolapse; Ventriculomegaly; Wide mouth; Wide nose; Widely spaced teeth; X-linked dominant inheritance
SERPINH111q13.5100%gene with protein product600943CBP1, CBP2, SERPINH2Autosomal recessive inheritance; Blue sclerae; Broad ribs; Chronic lung disease; Dentinogenesis imperfecta; Generalized hypotonia; Generalized joint laxity; Genu valgum; High forehead; High pitched voice; Inguinal hernia; Joint laxity; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Narrow chest; Narrow forehead; Nephrolithiasis; Osteopenia; Platyspondyly; Prominent forehead; Pyloric stenosis; Relative macrocephaly; Scoliosis; Shallow orbits; Short stature; Thin ribs; Triangular face; Vertebral compression fractures
SETBP118q12.399.32%gene with protein product611060Abnormality of the nasopharynx; Absent speech; Anteverted nares; Aplasia/Hypoplasia of the pubic bone; Atrial septal defect; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bicornuate uterus; Brachycephaly; Broad ribs; Cerebral atrophy; Choanal stenosis; Coarse facial features; Dental crowding; Depressed nasal bridge; Downslanted palpebral fissures; Facial hemangioma; Failure to thrive; Hepatoblastoma; High forehead; High palate; Hydronephrosis; Hydroureter; Hyperconvex nail; Hypertelorism; Hypertrichosis; Hypoplasia of first ribs; Hypoplasia of the corpus callosum; Hypoplastic labia majora; Hypoplastic labia minora; Hypoplastic nipples; Hypospadias; Hypsarrhythmia; Increased density of long bones; Intellectual disability; Long clavicles; Long face; Low-set ears; Macroglossia; Malar flattening; Metopic suture patent to nasal root; Micropenis; Midface retrusion; Motor delay; Narrow palate; Opisthotonus; Pointed chin; Postaxial hand polydactyly; Postnatal growth retardation; Prominent forehead; Ptosis; Sacrococcygeal teratoma; Sclerosis of skull base; Scrotal hypoplasia; Seizures; Shallow orbits; Short 1st metacarpal; Short distal phalanx of finger; Short neck; Short nose; Short sternum; Single transverse palmar crease; Sloping forehead; Synophrys; Talipes equinovarus; Thickened cortex of long bones; Thin upper lip vermilion; Tibial bowing; Ureteral stenosis; Ventriculomegaly; Wide distal femoral metaphysis; Widely patent fontanelles and sutures; Wormian bonesDisorders of Sex Development
SETD23p21.3199.97%gene with protein product612778Abnormality of immune system physiology; Accelerated skeletal maturation; Advanced eruption of teeth; Advanced ossification of carpal bones; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Arnold-Chiari malformation; Autistic behavior; Autosomal dominant inheritance; Conductive hearing impairment; Delayed speech and language development; Depressed nasal ridge; Dolichocephaly; Downslanted palpebral fissures; Feeding difficulties in infancy; Frontal bossing; Generalized hypotonia; Global developmental delay; High anterior hairline; High forehead; High palate; Hirsutism; Hypertelorism; Hypoglycemia; Intellectual disability; Long face; Long foot; Long nose; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Menstrual irregularities; Muscular hypotonia; Obesity; Overgrowth; Phenotypic variability; Pointed chin; Polycystic ovaries; Polyphagia; Precocious puberty; Prominent forehead; Recurrent otitis media; Seizures; Short stature; Shyness; Slurred speech; Syringomyelia; Tall stature; VentriculomegalyObesity
SETD23p21.3199.97%gene with protein product612778Abnormality of immune system physiology; Accelerated skeletal maturation; Advanced eruption of teeth; Advanced ossification of carpal bones; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Arnold-Chiari malformation; Autistic behavior; Autosomal dominant inheritance; Conductive hearing impairment; Delayed speech and language development; Depressed nasal ridge; Dolichocephaly; Downslanted palpebral fissures; Feeding difficulties in infancy; Frontal bossing; Generalized hypotonia; Global developmental delay; High anterior hairline; High forehead; High palate; Hirsutism; Hypertelorism; Hypoglycemia; Intellectual disability; Long face; Long foot; Long nose; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Menstrual irregularities; Muscular hypotonia; Obesity; Overgrowth; Phenotypic variability; Pointed chin; Polycystic ovaries; Polyphagia; Precocious puberty; Prominent forehead; Recurrent otitis media; Seizures; Short stature; Shyness; Slurred speech; Syringomyelia; Tall stature; VentriculomegalyObesity
SH3PXD2B5q35.1100%gene with protein product613293KIAA1295Abnormality of the metacarpal bones; Acne; Anterior concavity of thoracic vertebrae; Aseptic necrosis; Autosomal recessive inheritance; Beaking of vertebral bodies; Bowing of the long bones; Brachydactyly; Broad clavicles; Broad forehead; Broad nasal tip; Buphthalmos; Camptodactyly of finger; Clinodactyly of the 5th finger; Coarse facial features; Cortical irregularity; Deeply set eye; Delayed cranial suture closure; Delayed eruption of teeth; Dental malocclusion; Depressed nasal bridge; Downslanted palpebral fissures; Flared metaphysis; Flat occiput; Full cheeks; Genu recurvatum; Gingival overgrowth; Growth delay; High forehead; High palate; Hip dysplasia; Hypertelorism; Joint stiffness; Kyphosis; Low-set ears; Mandibular prognathia; Metatarsus adductus; Micrognathia; Mitral valve prolapse; Osteolysis; Osteopenia; Osteoporosis; Pectus excavatum; Premature loss of teeth; Prominent coccyx; Prominent forehead; Proptosis; Protruding ear; Scoliosis; Short long bone; Short phalanx of finger; Short philtrum; Talipes equinovarus; Thick vermilion border; Thickened skin; Wide anterior fontanel; Wide mouth; Wide nasal bridge; Wormian bones
SHOC210q25.2100%gene with protein product602775Anteverted nares; Aplasia/Hypoplasia of the eyebrow; Atrial septal defect; Autosomal dominant inheritance; Deep philtrum; Delayed skeletal maturation; Epicanthus; Hydrocephalus; Hyperactivity; Hypertelorism; Hypertrophic cardiomyopathy; Intellectual disability; Loose anagen hair; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Pectus excavatum; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Pulmonic stenosis; Short neck; Short nose; Short stature; Sparse scalp hair; Strabismus; Ventricular septal defect; Webbed neck
SKIV2L6p21.33100%gene with protein product600478SKIV2Autosomal recessive inheritance; Brittle hair; Cirrhosis; Colitis; Diarrhea; Failure to thrive; Hepatitis; Hepatomegaly; Hypertelorism; Immunodeficiency; Intrauterine growth retardation; Pili canaliculi; Prominent forehead; Small for gestational age; Sparse hair; Trichorrhexis nodosa; Uncombable hair; Villous atrophy; Wide nose; Woolly hairInflammatory Bowel Disease
SMG919q13.31100%gene with protein product613176C19orf61Abnormality of the pinna; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Camptodactyly of finger; Cerebral atrophy; Cleft lip; Dandy-Walker malformation; Delayed CNS myelination; Depressed nasal bridge; Everted lower lip vermilion; Gastroesophageal reflux; Generalized hypotonia; Global brain atrophy; Global developmental delay; Growth delay; Hand clenching; High, narrow palate; Hyperactive deep tendon reflexes; Hypertelorism; Hypoplasia of the corpus callosum; Interrupted aortic arch; Low-set ears; Microcephaly; Microphthalmia; Muscular hypotonia of the trunk; Narrow forehead; Polyhydramnios; Poor eye contact; Posteriorly rotated ears; Prominent forehead; Prominent metopic ridge; Prominent occiput; Thick lower lip vermilion; Ventricular septal defect; Visual impairment; Wide anterior fontanel; Wide nasal bridge
SMOC114q24.1100%gene with protein product608488Abnormal eyebrow morphology; Abnormal form of the vertebral bodies; Abnormality of the cardiovascular system; Abnormality of the hair; Abnormality of the metacarpal bones; Anophthalmia; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Blepharophimosis; Camptodactyly of 2nd-5th fingers; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Deep philtrum; Depressed nasal bridge; Downslanted palpebral fissures; Failure to thrive; Fibular hypoplasia; Finger syndactyly; Flared nostrils; Foot oligodactyly; Frontal bossing; Fused fourth and fifth metacarpals; Hand oligodactyly; High palate; Hip dislocation; Hypoplasia of the maxilla; Intellectual disability; Intellectual disability, moderate; Intellectual disability, severe; Large earlobe; Low-set ears; Low-set, posteriorly rotated ears; Microphthalmia; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Retrognathia; Sandal gap; Short nose; Short palpebral fissure; Short stature; Short tibia; Single transverse palmar crease; Synostosis of carpal bones; Talipes equinovarus; Tarsal synostosis; Tibial bowing; Toe syndactyly; True anophthalmia
SMOC114q24.1100%gene with protein product608488Abnormal eyebrow morphology; Abnormal form of the vertebral bodies; Abnormality of the cardiovascular system; Abnormality of the hair; Abnormality of the metacarpal bones; Anophthalmia; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Blepharophimosis; Camptodactyly of 2nd-5th fingers; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Deep philtrum; Depressed nasal bridge; Downslanted palpebral fissures; Failure to thrive; Fibular hypoplasia; Finger syndactyly; Flared nostrils; Foot oligodactyly; Frontal bossing; Fused fourth and fifth metacarpals; Hand oligodactyly; High palate; Hip dislocation; Hypoplasia of the maxilla; Intellectual disability; Intellectual disability, moderate; Intellectual disability, severe; Large earlobe; Low-set ears; Low-set, posteriorly rotated ears; Microphthalmia; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Retrognathia; Sandal gap; Short nose; Short palpebral fissure; Short stature; Short tibia; Single transverse palmar crease; Synostosis of carpal bones; Talipes equinovarus; Tarsal synostosis; Tibial bowing; Toe syndactyly; True anophthalmia
SNX146q14.399.85%gene with protein product616105Anteverted nares; Apraxia; Ataxia; Autistic behavior; Autosomal recessive inheritance; Babinski sign; Brachydactyly; Broad face; Broad philtrum; Camptodactyly; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral cortical atrophy; Clinodactyly; Coarse facial features; Delayed eruption of teeth; Dental crowding; Epicanthus; Generalized hypotonia; Global developmental delay; High palate; Hyporeflexia; Inability to walk; Infantile onset; Long philtrum; Prominent forehead; Relative macrocephaly; Short palpebral fissure; Spasticity; Talipes equinovarus; Thick vermilion border; Wide nasal base
SP712q13.1399.98%gene with protein product606633Autosomal recessive inheritance; Delayed eruption of teeth; Depressed nasal bridge; Facial asymmetry; Generalized osteoporosis; High palate; Malar flattening; Micrognathia; Midface retrusion; Motor delay; Narrow mouth; Pectus carinatum; Prominent forehead; Prominent supraorbital ridges; Scoliosis; Short stature; Wormian bones
SPECC1L22q11.23100%gene with protein product614140CYTSAAbnormality of the helix; Abnormality of the kidney; Abnormality of the skeletal system; Abnormality of the ureter; Absent gallbladder; Agenesis of corpus callosum; Anal atresia; Anal stenosis; Aplasia/Hypoplasia of the cerebellar vermis; Aspiration; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid scrotum; Bifid uvula; Brachydactyly; Cavum septum pellucidum; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Coarctation of aorta; Conductive hearing impairment; Cranial asymmetry; Cryptorchidism; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Dysphagia; Epicanthus; Everted lower lip vermilion; Facial cleft; Finger syndactyly; Frontal bossing; Generalized hypotonia; Global developmental delay; Hiatus hernia; High palate; Highly arched eyebrow; Hypertelorism; Hypospadias; Infantile onset; Inguinal hernia; Intellectual disability; Laryngeal cleft; Long philtrum; Low-set ears; Micrognathia; Patent ductus arteriosus; Posteriorly rotated ears; Preauricular pit; Prominent forehead; Prominent nasal bridge; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Round face; Shawl scrotum; Short lingual frenulum; Short nose; Short toe; Smooth philtrum; Sporadic; Strabismus; Telecanthus; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Ventriculomegaly; Weak cry; Wide nasal bridgeDisorders of Sex Development
SPECC1L22q11.23100%gene with protein product614140CYTSAAbnormality of the helix; Abnormality of the kidney; Abnormality of the skeletal system; Abnormality of the ureter; Absent gallbladder; Agenesis of corpus callosum; Anal atresia; Anal stenosis; Aplasia/Hypoplasia of the cerebellar vermis; Aspiration; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid scrotum; Bifid uvula; Brachydactyly; Cavum septum pellucidum; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Coarctation of aorta; Conductive hearing impairment; Cranial asymmetry; Cryptorchidism; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Dysphagia; Epicanthus; Everted lower lip vermilion; Facial cleft; Finger syndactyly; Frontal bossing; Generalized hypotonia; Global developmental delay; Hiatus hernia; High palate; Highly arched eyebrow; Hypertelorism; Hypospadias; Infantile onset; Inguinal hernia; Intellectual disability; Laryngeal cleft; Long philtrum; Low-set ears; Micrognathia; Patent ductus arteriosus; Posteriorly rotated ears; Preauricular pit; Prominent forehead; Prominent nasal bridge; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Round face; Shawl scrotum; Short lingual frenulum; Short nose; Short toe; Smooth philtrum; Sporadic; Strabismus; Telecanthus; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Ventriculomegaly; Weak cry; Wide nasal bridgeDisorders of Sex Development
STAT317q21.2100%gene with protein product102582Abnormal heart morphology; Abnormality of the hair; Arthrogryposis multiplex congenita; Atelectasis; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Bilateral ptosis; Celiac disease; Chronic otitis media; Cleft palate; Coarse facial features; Contractures of the joints of the lower limbs; Cough; Decreased antibody level in blood; Deeply set eye; Dehydration; Delayed eruption of teeth; Downturned corners of mouth; Dystrophic fingernails; Eczema; Eczematoid dermatitis; Eosinophilia; Failure to thrive; Frontal bossing; Generalized abnormality of skin; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Gingivitis; Global developmental delay; Glycosuria; High palate; Hyperglycemia; Hypertelorism; Hypovolemia; Increased IgE level; Infantile onset; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Ketonuria; Microalbuminuria; Motor delay; Neonatal insulin-dependent diabetes mellitus; Osteopenia; Papule; Paronychia; Persistence of primary teeth; Prominent forehead; Prominent metopic ridge; Pruritus; Recurrent fractures; Recurrent fungal infections; Recurrent respiratory infections; Recurrent sinopulmonary infections; Recurrent Staphylococcus aureus infections; Reduced pancreatic beta cells; Retinopathy; Scoliosis; Short stature; Skin rash; Skin ulcer; Weight loss; Wide nasal bridge; Wide noseAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
STAT317q21.2100%gene with protein product102582Abnormal heart morphology; Abnormality of the hair; Arthrogryposis multiplex congenita; Atelectasis; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Bilateral ptosis; Celiac disease; Chronic otitis media; Cleft palate; Coarse facial features; Contractures of the joints of the lower limbs; Cough; Decreased antibody level in blood; Deeply set eye; Dehydration; Delayed eruption of teeth; Downturned corners of mouth; Dystrophic fingernails; Eczema; Eczematoid dermatitis; Eosinophilia; Failure to thrive; Frontal bossing; Generalized abnormality of skin; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Gingivitis; Global developmental delay; Glycosuria; High palate; Hyperglycemia; Hypertelorism; Hypovolemia; Increased IgE level; Infantile onset; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Ketonuria; Microalbuminuria; Motor delay; Neonatal insulin-dependent diabetes mellitus; Osteopenia; Papule; Paronychia; Persistence of primary teeth; Prominent forehead; Prominent metopic ridge; Pruritus; Recurrent fractures; Recurrent fungal infections; Recurrent respiratory infections; Recurrent sinopulmonary infections; Recurrent Staphylococcus aureus infections; Reduced pancreatic beta cells; Retinopathy; Scoliosis; Short stature; Skin rash; Skin ulcer; Weight loss; Wide nasal bridge; Wide noseAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
SUMF13p26.1100%gene with protein product607939Abnormality of peripheral nerve conduction; Abnormality of retinal pigmentation; Abnormality of the periventricular white matter; Anteverted nares; Ataxia; Autosomal recessive inheritance; Broad hallux; Broad hallux phalanx; Broad thumb; Cataract; Cerebellar atrophy; Cerebral atrophy; CNS demyelination; Coarse facial features; Coarse hair; Corneal opacity; Depressed nasal bridge; Developmental regression; Dysostosis multiplex; Flat face; Global developmental delay; Hearing impairment; Hepatomegaly; Hydrocephalus; Hypoplastic vertebral bodies; Ichthyosis; Increased CSF protein; Intellectual disability; Joint stiffness; Large forehead; Lower limb hyperreflexia; Macrocephaly; Mucopolysacchariduria; Neonatal hypotonia; Optic atrophy; Periorbital edema; Peripheral demyelination; Prominent forehead; Rapid neurologic deterioration; Retinal degeneration; Seizures; Sensorineural hearing impairment; Short stature; Smooth philtrum; Spasticity; Splenomegaly; Thick eyebrow; Ventriculomegaly; Visual impairment
TAPT14p15.3299.91%gene with protein product612758Adducted thumb; Anteverted nares; Ascites; Autosomal recessive inheritance; Beaded ribs; Brachycephaly; Cardiomegaly; Cerebellar hypoplasia; Cleft palate; Decreased skull ossification; Flared metaphysis; Flat face; Flexion contracture; Fractured radius; Hydronephrosis; Hydrops fetalis; Hypertelorism; Hypertrophic cardiomyopathy; Hypospadias; Intrauterine growth retardation; Large fleshy ears; Limb undergrowth; Low-set ears; Microcephaly; Micrognathia; Micropenis; Multiple prenatal fractures; Multiple rib fractures; Osteopenia; Platyspondyly; Pleural effusion; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Pulmonary hypoplasia; Short femur; Short neck; Short nose; Short ribs; Single umbilical artery; Small for gestational age; Telecanthus; Thoracic hypoplasia; Unilateral cleft lip; Ventricular septal defect; Ventriculomegaly; Webbed neck; Wide nasal bridge; Wormian bones
TBCE1q42.3100%gene with protein product604934KCS, HRDAbnormality of dental enamel; Anemia; Ataxia; Autosomal recessive inheritance; Bifid uvula; Birth length less than 3rd percentile; Calvarial osteosclerosis; Carious teeth; Cerebellar atrophy; Congenital hypoparathyroidism; Convex nasal ridge; Cortical thickening of long bone diaphyses; Cryptorchidism; Decreased skull ossification; Deeply set eye; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed myelination; Delayed skeletal maturation; Depressed nasal bridge; Dysarthria; Encephalopathy; External ear malformation; Foot dorsiflexor weakness; Frontal bossing; Full cheeks; Global developmental delay; Growth hormone deficiency; High forehead; Hyperphosphatemia; Hypertelorism; Hypocalcemia; Hypocalcemic seizures; Hypocalcemic tetany; Hypomagnesemia; Hypoplasia of the corpus callosum; Infantile onset; Intellectual disability; Intrauterine growth retardation; Long clavicles; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micropenis; Optic atrophy; Patchy osteosclerosis; Peripheral axonal neuropathy; Posteriorly rotated ears; Postnatal growth retardation; Progressive; Prominent forehead; Proportionate short stature; Recurrent bacterial infections; Recurrent respiratory infections; Scoliosis; Seizures; Severe intrauterine growth retardation; Severe muscular hypotonia; Short foot; Short palm; Short stature; Slender long bone; Small hand; Spastic tetraplegia; Spinal muscular atrophy; Stenosis of the medullary cavity of the long bones; Tetany; Thin clavicles; Thin long bone diaphyses; Thin ribs; Thin vermilion border; Ventriculomegaly
TTC375q15100%gene with protein product614589KIAA0372Abnormality of iron homeostasis; Abnormality of the immune system; Abnormality of the pancreas; Anteverted nares; Autosomal recessive inheritance; Bifid uvula; Brittle hair; Cholestasis; Cirrhosis; Cognitive impairment; Curly hair; Depressed nasal ridge; Diarrhea; Downslanted palpebral fissures; Failure to thrive; Fine hair; Frontal bossing; Galactosuria; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hypermethioninemia; Hypertelorism; Hypoalbuminemia; Intractable diarrhea; Intrauterine growth retardation; Jaundice; Large placenta; Long philtrum; Low-set ears; Microtia; Narrow mouth; Polyhydramnios; Prominent forehead; Proptosis; Renal cortical microcysts; Short stature; Small for gestational age; Sparse hair; Trichorrhexis nodosa; Underdeveloped supraorbital ridges; Villous atrophy; Wide mouth; Wide nose; Woolly hairInflammatory Bowel Disease
UNC802q34100%gene with protein product612636C2orf21Anteverted nares; Autosomal recessive inheritance; Brachycephaly; Broad forehead; Bulbous nose; Constipation; Epicanthus; Failure to thrive in infancy; Feeding difficulties; Frontal bossing; Generalized hypotonia; Global brain atrophy; High forehead; Intellectual disability, profound; Low-set ears; Nystagmus; Open mouth; Osteopenia; Plagiocephaly; Posteriorly rotated ears; Profound static encephalopathy; Prominent forehead; Prominent nasal bridge; Prominent nose; Ptosis; Short neck; Short philtrum; Smooth philtrum; Spasticity; Tapered finger; Thin upper lip vermilion; Triangular face
UPF3BXq2499.88%gene with protein product300298MRX62, UPF3BP1, UPF3BP2, UPF3BP3Abnormality of the musculature; Aplasia/Hypoplasia of the corpus callosum; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Disproportionate tall stature; Frontal bossing; Growth abnormality; High forehead; High palate; Hypoplasia of the maxilla; Intellectual disability; Joint hyperflexibility; Kyphosis; Long face; Long foot; Macrocephaly; Macroorchidism; Mandibular prognathia; Micrognathia; Muscular hypotonia; Narrow chest; Narrow face; Nasal speech; Neurological speech impairment; Pectus carinatum; Pectus excavatum; Prominent forehead; Prominent nasal bridge; Scoliosis; Short philtrum; X-linked recessive inheritance
USP9XXp11.499.99%gene with protein product300072Abnormality of the dentition; Astigmatism; Atrial septal defect; Brachycephaly; Broad thumb; Bulbous nose; Cataract; Cleft palate; Delayed speech and language development; Depressed nasal bridge; Facial asymmetry; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hip dislocation; Hydronephrosis; Hypermetropia; Hypotelorism; Intellectual disability; Joint laxity; Long philtrum; Low-set ears; Myopia; Narrow forehead; Patent ductus arteriosus; Pes cavus; Phenotypic variability; Posteriorly rotated ears; Prominent forehead; Prominent nose; Renal dysplasia; Respiratory distress; Short foot; Short palpebral fissure; Short stature; Small hand; Smooth philtrum; Strabismus; Tapered finger; Wide nasal bridge; X-linked dominant inheritance; X-linked recessive inheritance
USP9XXp11.499.99%gene with protein product300072Abnormality of the dentition; Astigmatism; Atrial septal defect; Brachycephaly; Broad thumb; Bulbous nose; Cataract; Cleft palate; Delayed speech and language development; Depressed nasal bridge; Facial asymmetry; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hip dislocation; Hydronephrosis; Hypermetropia; Hypotelorism; Intellectual disability; Joint laxity; Long philtrum; Low-set ears; Myopia; Narrow forehead; Patent ductus arteriosus; Pes cavus; Phenotypic variability; Posteriorly rotated ears; Prominent forehead; Prominent nose; Renal dysplasia; Respiratory distress; Short foot; Short palpebral fissure; Short stature; Small hand; Smooth philtrum; Strabismus; Tapered finger; Wide nasal bridge; X-linked dominant inheritance; X-linked recessive inheritance
VPS33A12q24.31100%gene with protein product610034Abnormality of the foot; Acetabular dysplasia; Anemia; Autosomal recessive inheritance; Coarse facial features; Coarse hair; Dysostosis multiplex; Epicanthus; Flared iliac wings; Flexion contracture; Focal segmental glomerulosclerosis; Global developmental delay; Hepatomegaly; Hirsutism; Hypertrophic cardiomyopathy; Infantile onset; J-shaped sella turcica; Long eyelashes; Macroglossia; Macrovesicular hepatic steatosis; Optic atrophy; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Prominent forehead; Proteinuria; Recurrent respiratory infections; Respiratory distress; Short neck; Splenomegaly; Synophrys; Telecanthus; Thick vermilion border; Thrombocytopenia; Tubular atrophy; Wide nasal bridge; Wide nose
WAC10p12.199.96%gene with protein product615049Abnormality of the pinna; Aggressive behavior; Agitation; Anxiety; Astigmatism; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Brachycephaly; Broad forehead; Bulbous nose; Coarse facial features; Deeply set eye; Delayed speech and language development; Depressed nasal bridge; Downturned corners of mouth; Full cheeks; Generalized hypotonia; Hearing impairment; Hirsutism; Hypertelorism; Infantile onset; Inverted nipples; Midface retrusion; Myopia; Posteriorly rotated ears; Prominent forehead; Short neck; Strabismus; Synophrys; Thick eyebrow; Thin upper lip vermilion
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
ZBTB181q4499.99%gene with protein product608433ZNF238Abnormality of the pinna; Agenesis of corpus callosum; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Depressed nasal bridge; Epicanthus; Generalized hypotonia; Global developmental delay; Hypertelorism; Intellectual disability; Low-set ears; Microcephaly; Micrognathia; Prominent forehead; Round face; Seizures; Short stature; Smooth philtrum; Thin upper lip vermilion; Thin vermilion border; Variable expressivity
ZBTB181q4499.99%gene with protein product608433ZNF238Abnormality of the pinna; Agenesis of corpus callosum; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Depressed nasal bridge; Epicanthus; Generalized hypotonia; Global developmental delay; Hypertelorism; Intellectual disability; Low-set ears; Microcephaly; Micrognathia; Prominent forehead; Round face; Seizures; Short stature; Smooth philtrum; Thin upper lip vermilion; Thin vermilion border; Variable expressivity
ZMPSTE241p34.2100%gene with protein product606480Abnormal cellular phenotype; Abnormal trabecular bone morphology; Abnormality of the dentition; Abnormality of the fingertips; Abnormality of the neck; Abnormality of the pinna; Absence of pubertal development; Absent eyelashes; Acroosteolysis of distal phalanges (feet); Adrenal hypoplasia; Alopecia; Aminoaciduria; Angina pectoris; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atrial septal defect; Autosomal recessive inheritance; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brittle hair; Broad-based gait; Calcinosis; Choanal atresia; Congenital pseudoarthrosis of the clavicle; Convex nasal ridge; Craniofacial disproportion; Cyanosis; Decreased adipose tissue around neck; Decreased calvarial ossification; Decreased fetal movement; Decreased serum estradiol; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Dental crowding; Dermal atrophy; Dermal translucency; Downslanted palpebral fissures; Entropion; Epidermal hyperkeratosis; Failure to thrive; Flexion contracture; Generalized hyperkeratosis; Generalized lipodystrophy; Glucose intolerance; Hepatic steatosis; Heterogeneous; High palate; High pitched voice; Hydropic placenta; Hyperglycemia; Hyperinsulinemia; Hyperlipidemia; Hypermetropia; Hyperphosphatemia; Hyperpigmentation of the skin; Hypertelorism; Hypertension; Hypodontia; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hypospadias; Hypotrichosis; Increased anterioposterior diameter of thorax; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intrauterine growth retardation; Joint stiffness; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Lack of skin elasticity; Large fontanelles; Lipoatrophy; Loss of facial adipose tissue; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Metaphyseal widening; Micrognathia; Mottled pigmentation; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Osteoarthritis; Osteolytic defects of the distal phalanges of the hand; Osteopenia; Osteoporosis; Overtubulated long bones; Ovoid vertebral bodies; Patent ductus arteriosus; Polyhydramnios; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature rupture of membranes; Progeroid facial appearance; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Proptosis; Pulmonary hypoplasia; Reticulated skin pigmentation; Rocker bottom foot; Scaling skin; Sensorineural hearing impairment; Short clavicles; Short distal phalanx of finger; Short nail; Short nose; Short palpebral fissure; Short phalanx of finger; Short stature; Short umbilical cord; Skin erosion; Small placenta; Sparse and thin eyebrow; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Stiff skin; Stillbirth; Structural foot deformity; Submucous cleft hard palate; Tapering pointed ends of distal finger phalanges; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Ureteral duplication; Widely patent fontanelles and sutures; Wormian bonesHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis


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