XomeDxSlice Tool

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

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Phenotypes
Muscular hypotonia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
A2ML112p13.31100%gene with protein product610627CPAMD9Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the spleen; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Coarse hair; Cryptorchidism; Cystic hygroma; Delayed skeletal maturation; Downslanted palpebral fissures; Dysarthria; Enlarged thorax; Feeding difficulties in infancy; Hepatomegaly; High forehead; High palate; Hypertelorism; Hypogonadotrophic hypogonadism; Joint hyperflexibility; Low posterior hairline; Low-set, posteriorly rotated ears; Micrognathia; Midface retrusion; Muscle weakness; Muscular hypotonia; Pectus carinatum; Pectus excavatum; Proptosis; Ptosis; Pulmonary artery stenosis; Scoliosis; Short stature; Strabismus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Triangular face; Webbed neck; Wide intermamillary distance
AASS7q31.3299.99%gene with protein product605113Abnormality of the genitourinary system; Anemia; Autosomal recessive inheritance; Cognitive impairment; Delayed speech and language development; Ectopia lentis; EEG abnormality; Histidinuria; Hyperactivity; Hyperlysinemia; Hyperlysinuria; Infantile onset; Intellectual disability; Intellectual disability, mild; Muscular hypotonia; Phenotypic variability; Seizures; Short attention span; Short stature; Spastic diplegia
ACAD811q25100%gene with protein product604773Anemia; Autosomal recessive inheritance; Decreased plasma carnitine; Dilated cardiomyopathy; Muscular hypotonia
ACOX117q25.1100%gene with protein product609751Abnormal electroretinogram; Abnormality of metabolism/homeostasis; Abnormality of nervous system morphology; Abnormality of visual evoked potentials; Autosomal recessive inheritance; Babinski sign; Bilateral sensorineural hearing impairment; Brachycephaly; CNS demyelination; Death in infancy; Decreased light- and dark-adapted electroretinogram amplitude; Depressed nasal bridge; Developmental regression; Diffuse hepatic steatosis; Dysphagia; Dystonia; EEG abnormality; Elevated hepatic transaminases; Epicanthus; Failure to thrive; Frontal bossing; Gait disturbance; Global developmental delay; Hepatomegaly; Hyperreflexia; Hypertelorism; Hypertonia; Hypodontia; Infantile onset; Intellectual disability, progressive; Intellectual disability, severe; Inverted nipples; Irritability; Leukodystrophy; Low-set ears; Muscular hypotonia; Myopia; Neonatal hypotonia; Neurological speech impairment; No social interaction; Nystagmus; Optic atrophy; Pigmentary retinopathy; Respiratory insufficiency; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Strabismus; Tapetoretinal degeneration; Wide nasal bridge
ACSL4Xq2399.95%gene with protein product300157FACL4, MRX63, MRX68Abnormality of the hair; Anteverted nares; Anxiety; Depressed nasal bridge; Downslanted palpebral fissures; Elliptocytosis; Glomerulopathy; Hearing impairment; Hyperreflexia; Intellectual disability; Intellectual disability, severe; Malar flattening; Microscopic hematuria; Muscular hypotonia; Proteinuria; Renal insufficiency; Tapered finger; Thick vermilion border; Thin vermilion border; X-linked dominant inheritance; X-linked inheritance
ACTA11q42.13100%gene with protein product102610ACTAAbnormality on pulmonary function testing; Achilles tendon contracture; Areflexia; Arthrogryposis multiplex congenita; Autophagic vacuoles; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Cardiac conduction abnormality; Centrally nucleated skeletal muscle fibers; Congenital onset; Decreased fetal movement; Difficulty climbing stairs; Dilated cardiomyopathy; Distal muscle weakness; Dysphagia; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Foot dorsiflexor weakness; Frequent falls; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Gowers sign; Hamstring contractures; Hand muscle atrophy; Handgrip myotonia; Heterogeneous; High palate; Hip contracture; Hyperlordosis; Hyporeflexia; Increased connective tissue; Increased variability in muscle fiber diameter; Late-onset distal muscle weakness; Limb muscle weakness; Limb-girdle muscular dystrophy; Long face; Lumbar hyperlordosis; Mask-like facies; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Muscle fiber splitting; Muscular hypotonia; Myofibrillar myopathy; Myopathic facies; Myopathy; Narrow face; Neck flexor weakness; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Pectus excavatum; Pes cavus; Phenotypic variability; Pneumonia; Polyhydramnios; Poor head control; Progressive muscle weakness; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Retrognathia; Rimmed vacuoles; Scoliosis; Skeletal muscle atrophy; Slender build; Slow progression; Spinal rigidity; Torticollis; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Waddling gait; Weak cry; Wrist dropRhabdomyolysis
ADAMTS25q35.3100%gene with protein product604539Abnormality of primary molar morphology; Abnormality of subcutaneous fat tissue; Aphasia; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Blepharochalasis; Blue sclerae; Bruising susceptibility; Coxa valga; Coxa vara; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Downslanted palpebral fissures; Dysphasia; Echolalia; Epicanthus; Esophagitis; Everted lower lip vermilion; Excessive wrinkled skin; Femoral hernia; Fragile skin; Frontal open bite; Gastroesophageal reflux; Gingival bleeding; Gingival hyperkeratosis; Gingival overgrowth; Hiatus hernia; Hip dislocation; Hip dysplasia; Hirsutism; Hyperextensible skin; Hypodontia; Inguinal hernia; Joint hyperflexibility; Joint laxity; Joint stiffness; Micrognathia; Micromelia; Motor delay; Muscular hypotonia; Mutism; Myopia; Osteomalacia; Osteopenia; Osteoporosis; Premature birth; Premature rupture of membranes; Prolonged bleeding time; Recurrent mandibular subluxations; Redundant skin; Retrognathia; Rickets; Scarring; Scoliosis; Severe short stature; Short phalanx of finger; Short stature; Short toe; Soft, doughy skin; Spontaneous neonatal pneumothorax; Thick vermilion border; Thin skin; Umbilical hernia; Wide anterior fontanel
ADCY612q13.12100%gene with protein product600294Areflexia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; EMG abnormality; Facial diplegia; Generalized hypotonia; Limitation of joint mobility; Muscular hypotonia; Oral-pharyngeal dysphagia; Reduced tendon reflexes; Respiratory distress
AHI16q23.399.99%gene with protein product608894Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Apnea; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Conductive hearing impairment; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Highly arched eyebrow; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Long face; Low-set ears; Molar tooth sign on MRI; Motor delay; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nystagmus; Obesity; Oculomotor apraxia; Open mouth; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Ptosis; Retinal dystrophy; Sensorineural hearing impairment; Stage 5 chronic kidney disease; Visual impairment; Wide nasal bridgeHeterotaxy
AHI16q23.399.99%gene with protein product608894Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Apnea; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Conductive hearing impairment; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Highly arched eyebrow; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Long face; Low-set ears; Molar tooth sign on MRI; Motor delay; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nystagmus; Obesity; Oculomotor apraxia; Open mouth; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Ptosis; Retinal dystrophy; Sensorineural hearing impairment; Stage 5 chronic kidney disease; Visual impairment; Wide nasal bridgeHeterotaxy
AHSG3q27.399.98%gene with protein product138680Alopecia; Alopecia universalis; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Brachydactyly; Delayed skeletal maturation; EEG abnormality; Hearing impairment; Hypergonadotropic hypogonadism; Ichthyosis; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Microcephaly; Muscular hypotonia; Photophobia; Seizures; Short corpus callosum; Short stature; Sparse body hair; Sparse scalp hair; Split hand
AIPL117p13.2100%gene with protein product604392LCA4Abnormal electroretinogram; Abnormality of color vision; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Aplasia/Hypoplasia of the cerebellar vermis; Attenuation of retinal blood vessels; Autosomal recessive inheritance; Cataract; Cone/cone-rod dystrophy; Constriction of peripheral visual field; Encephalocele; Hemiplegia/hemiparesis; Keratoconus; Macular atrophy; Muscular hypotonia; Nyctalopia; Nystagmus; Optic disc pallor; Pendular nystagmus; Photophobia; Reduced visual acuity; Rod-cone dystrophy; Seizures; Severe visual impairment; Undetectable light- and dark-adapted electroretinogram
ALDH5A16p22.3100%gene with protein product610045Abnormality of eye movement; Abnormality of metabolism/homeostasis; Absence seizures; Aggressive behavior; Anxiety; Ataxia; Autism; Autosomal recessive inheritance; Behavioral abnormality; Delayed speech and language development; EEG abnormality; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hallucinations; Hyperactivity; Hyperkinesis; Hyporeflexia; Infantile onset; Intellectual disability; Motor delay; Muscular hypotonia; Phenotypic variability; Psychosis; Self-injurious behavior; Status epilepticus
ALDH6A114q24.3100%gene with protein product603178MMSDHAbnormal facial shape; Autosomal recessive inheritance; Bulbous nose; Cataract; Delayed myelination; Depressed nasal bridge; Downslanted palpebral fissures; Dystonia; Epicanthus; Feeding difficulties; Frontal bossing; Generalized hypotonia; Global developmental delay; High forehead; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Long philtrum; Metabolic acidosis; Microcephaly; Microphthalmia; Muscular hypotonia; Phenotypic variability; Short nose; Tented upper lip vermilion
ALDH7A15q23.2100%gene with protein product107323ATQ1Abnormality of metabolism/homeostasis; Abnormality of movement; Autosomal recessive inheritance; Delayed speech and language development; EEG abnormality; Fetal distress; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Intellectual disability; Muscular hypotonia; Neonatal respiratory distress; Neurological speech impairment; Prenatal movement abnormality; Respiratory distress; Status epilepticus
ALG1222q13.33100%gene with protein product607144Abnormality of immune system physiology; Abnormality of the genital system; Abnormality of the pinna; Cognitive impairment; Failure to thrive; Feeding difficulties; Generalized hypotonia; Hypocalcemia; Muscular hypotonia; Progressive microcephaly; Prolonged partial thromboplastin time; Respiratory tract infection; Short philtrum
ALG33q27.1100%gene with protein product608750Abnormality of vision; Adducted thumb; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bifid uvula; Bulbous nose; Cerebellar atrophy; Cerebral atrophy; Clinodactyly of the 5th toe; Decreased light- and dark-adapted electroretinogram amplitude; Depressed nasal bridge; Diarrhea; Epicanthus; Failure to thrive; Food intolerance; Global developmental delay; High palate; Hyperreflexia; Hypertonia; Hypsarrhythmia; Iris coloboma; Joint contracture of the hand; Long fingers; Macrotia; Microcephaly; Muscular hypotonia; Muscular hypotonia of the trunk; Nail dysplasia; Optic atrophy; Seizures; Severe visual impairment; Small nail; Strabismus; Talipes equinovarus; Type I transferrin isoform profile; Villous atrophy; Vomiting; Wide nasal bridge
ALG61p31.399.94%gene with protein product604566Areflexia; Ataxia; Autosomal recessive inheritance; Elevated serum transaminases during infections; Global developmental delay; Hepatic failure; Muscular hypotonia; Muscular hypotonia of the trunk; Reduced antithrombin III activity; Reduced factor XI activity; Seizures; Strabismus; Type I transferrin isoform profile
ALG911q23.1100%gene with protein product606941DIBD1Abnormal heart morphology; Abnormal lung lobation; Autosomal recessive inheritance; Brachycephaly; Cognitive impairment; Congenital diaphragmatic hernia; Congenital onset; Convex nasal ridge; Delayed CNS myelination; Esotropia; Failure to thrive; Flexion contracture; Generalized hypotonia; Global brain atrophy; Global developmental delay; Hepatic failure; Hepatosplenomegaly; Hypertelorism; Inverted nipples; Large fleshy ears; Low-set ears; Microcephaly; Micrognathia; Muscular hypotonia; Pericardial effusion; Periportal fibrosis; Polycystic kidney dysplasia; Posteriorly rotated ears; Pulmonary hypoplasia; Retrognathia; Seizures; Short long bone; Short neck; Skeletal dysplasia; Smooth philtrum; Telecanthus; Ulnar deviation of the hand; Underdeveloped nasal alae
AMMECR1Xq2399.99%gene with protein product300195Abnormality of the hair; Anteverted nares; Broad forehead; Depressed nasal bridge; Downslanted palpebral fissures; Elliptocytosis; Flat face; Glomerulopathy; Hearing impairment; Hypercalciuria; Intellectual disability; Intellectual disability, severe; Malar flattening; Micrognathia; Microscopic hematuria; Muscular hypotonia; Proteinuria; Renal insufficiency; Sensorineural hearing impairment; Talipes; Tapered finger; Thick vermilion border; Thin vermilion border; X-linked recessive inheritance
ANTXR24q21.21100%gene with protein product608041Abnormal diaphysis morphology; Abnormality of dental morphology; Abnormality of the adrenal glands; Abnormality of the hair; Abnormality of the skull; Aplasia/Hypoplasia of the skin; Aplasia/Hypoplasia of the thymus; Autosomal recessive inheritance; Brachydactyly; Camptodactyly of finger; Chronic diarrhea; Coarse facial features; Death in infancy; Diarrhea; Failure to thrive; Feeding difficulties; Gingival fibromatosis; Gingival overgrowth; Hyperpigmentation of the skin; Immunodeficiency; Joint stiffness; Lymphedema; Macrocephaly; Micromelia; Muscular hypotonia; Osteolysis; Osteomalacia; Osteopenia; Osteoporosis; Papule; Polycystic ovaries; Progressive; Progressive flexion contractures; Recurrent bacterial infections; Recurrent fractures; Recurrent infections; Severe short stature; Short neck; Short palm; Skin ulcer; Steatorrhea; Subcutaneous nodule; Telangiectasia of the skin; Thickened skin; Urticaria; Variable expressivity
AP1S2Xp22.2100%gene with protein product300629MRX59, MRXS5, PGSAggressive behavior; Aplasia/Hypoplasia of the cerebellum; Autistic behavior; Cerebral calcification; Cerebral cortical atrophy; Coarse facial features; Cryptorchidism; Gait disturbance; Global developmental delay; High palate; Hydrocephalus; Inguinal hernia; Intellectual disability, moderate; Long face; Macrocephaly; Macrotia; Muscular hypotonia; Poor speech; Scoliosis; Short philtrum; Spastic diplegia; Strabismus; Ventriculomegaly
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
ARXq1299.99%gene with protein productPlease note spinal and bulbar muscular atrophy is associated with a repeat expansion in the AR gene which may not be detected by XomeDxSlice.313700DHTR, SBMAAbnormality of the mouth; Abnormality of the rib cage; Absent axillary hair; Absent facial hair; Absent pubic hair; Absent vas deferens; Adult onset; Aplasia of the uterus; Aplasia/Hypoplasia of the fallopian tube; Azoospermia; Bifid scrotum; Blind vagina; Bulbar palsy; Calf muscle hypertrophy; Cryptorchidism; Decreased fertility; Dysarthria; Dysphagia; Dysphonia; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Elevated serum creatine phosphokinase; Erectile abnormalities; Fasciculations; Female external genitalia in individual with 46,XY karyotype; Female pseudohermaphroditism; Gait disturbance; Gonadal neoplasm; Growth abnormality; Gynecomastia; Hypogonadism; Hyporeflexia; Hypospadias; Infertility; Inguinal hernia; Labial hypoplasia; Limb muscle weakness; Male pseudohermaphroditism; Micropenis; Muscle cramps; Muscular hypotonia; Neoplasm; Nephrolithiasis; Osteoporosis; Perineal hypospadias; Peripheral neuropathy; Primary amenorrhea; Sensory neuropathy; Skeletal muscle atrophy; Slow progression; Sparse axillary hair; Sparse pubic hair; Testicular atrophy; Tremor; X-linked recessive inheritanceAplastic Anemia ; Autoimmune Disorders ; Bardet-Biedl Syndrome ; Bone Marrow Failure Syndromes ; Disorders of Sex Development; Ectodermal Dysplasia ; Heterotaxy ; Inflammatory Bowel Disease ; Muscular dystropy-dystroglycanopathy (Walker-Warburg); Nephrotic Syndrome ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis
ARID1A1p36.11100%gene with protein product603024C1orf4, SMARCF1Abnormality of cardiovascular system morphology; Abnormality of the dentition; Abnormality of the pinna; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanges of the hand; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Autosomal dominant inheritance; Brachydactyly; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Elbow dislocation; Feeding difficulties in infancy; Generalized hirsutism; Generalized hypotonia; Global developmental delay; Hearing impairment; Hypertrichosis; Hypoplastic fifth fingernail; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Long eyelashes; Low anterior hairline; Macroglossia; Microcephaly; Muscular hypotonia; Nystagmus; Recurrent respiratory infections; Scoliosis; Seizures; Short distal phalanx of finger; Short stature; Slow-growing hair; Small nail; Strabismus; Thick eyebrow; Thick lower lip vermilion; Visual impairment; Wide mouth; Wide nasal bridge; Wide nose
ARID1B6q25.3100%gene with protein product614556Abnormality of cardiovascular system morphology; Abnormality of the dentition; Abnormality of the pinna; Abnormality of vision; Agenesis of corpus callosum; Aggressive behavior; Aplasia of the uterus; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Astigmatism; Atrial septal defect; Autistic behavior; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad nasal tip; Bulbous nose; Choanal atresia; Cleft palate; Coarse facial features; Congenital diaphragmatic hernia; Coxa valga; Cryptorchidism; Cutis marmorata; Dandy-Walker malformation; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dislocated radial head; Downslanted palpebral fissures; Duodenal ulcer; Ectopic kidney; Elbow dislocation; Epicanthus; Facial hypertrichosis; Failure to thrive; Feeding difficulties in infancy; Gastric ulcer; Generalized hirsutism; Global developmental delay; Hearing impairment; Hemangioma; High palate; Hydronephrosis; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplastic fifth fingernail; Hypospadias; Hypotelorism; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intestinal malrotation; Intrauterine growth retardation; Intussusception; Joint hyperflexibility; Joint laxity; Kyphosis; Long eyelashes; Low-set ears; Low-set, posteriorly rotated ears; Lumbosacral hirsutism; Malar flattening; Microcephaly; Muscular hypotonia; Myopia; Nystagmus; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Phenotypic variability; Plagiocephaly; Posteriorly rotated ears; Postnatal growth retardation; Preauricular skin tag; Prominent interphalangeal joints; Ptosis; Recurrent respiratory infections; Renal hypoplasia; Sacral dimple; Scoliosis; Seizures; Sensorineural hearing impairment; Severe expressive language delay; Short distal phalanx of finger; Short distal phalanx of the 5th finger; Short distal phalanx of the 5th toe; Short stature; Short sternum; Single transverse palmar crease; Slow-growing hair; Sparse scalp hair; Spina bifida occulta; Strabismus; Tetralogy of Fallot; Thick eyebrow; Thick lower lip vermilion; Thin upper lip vermilion; Umbilical hernia; Ventricular septal defect; Visual impairment; Wide mouth; Wide nasal bridge
ARID1B6q25.3100%gene with protein product614556Abnormality of cardiovascular system morphology; Abnormality of the dentition; Abnormality of the pinna; Abnormality of vision; Agenesis of corpus callosum; Aggressive behavior; Aplasia of the uterus; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Astigmatism; Atrial septal defect; Autistic behavior; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad nasal tip; Bulbous nose; Choanal atresia; Cleft palate; Coarse facial features; Congenital diaphragmatic hernia; Coxa valga; Cryptorchidism; Cutis marmorata; Dandy-Walker malformation; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dislocated radial head; Downslanted palpebral fissures; Duodenal ulcer; Ectopic kidney; Elbow dislocation; Epicanthus; Facial hypertrichosis; Failure to thrive; Feeding difficulties in infancy; Gastric ulcer; Generalized hirsutism; Global developmental delay; Hearing impairment; Hemangioma; High palate; Hydronephrosis; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplastic fifth fingernail; Hypospadias; Hypotelorism; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intestinal malrotation; Intrauterine growth retardation; Intussusception; Joint hyperflexibility; Joint laxity; Kyphosis; Long eyelashes; Low-set ears; Low-set, posteriorly rotated ears; Lumbosacral hirsutism; Malar flattening; Microcephaly; Muscular hypotonia; Myopia; Nystagmus; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Phenotypic variability; Plagiocephaly; Posteriorly rotated ears; Postnatal growth retardation; Preauricular skin tag; Prominent interphalangeal joints; Ptosis; Recurrent respiratory infections; Renal hypoplasia; Sacral dimple; Scoliosis; Seizures; Sensorineural hearing impairment; Severe expressive language delay; Short distal phalanx of finger; Short distal phalanx of the 5th finger; Short distal phalanx of the 5th toe; Short stature; Short sternum; Single transverse palmar crease; Slow-growing hair; Sparse scalp hair; Spina bifida occulta; Strabismus; Tetralogy of Fallot; Thick eyebrow; Thick lower lip vermilion; Thin upper lip vermilion; Umbilical hernia; Ventricular septal defect; Visual impairment; Wide mouth; Wide nasal bridge
ARID1B6q25.3100%gene with protein product614556Abnormality of cardiovascular system morphology; Abnormality of the dentition; Abnormality of the pinna; Abnormality of vision; Agenesis of corpus callosum; Aggressive behavior; Aplasia of the uterus; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Astigmatism; Atrial septal defect; Autistic behavior; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad nasal tip; Bulbous nose; Choanal atresia; Cleft palate; Coarse facial features; Congenital diaphragmatic hernia; Coxa valga; Cryptorchidism; Cutis marmorata; Dandy-Walker malformation; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dislocated radial head; Downslanted palpebral fissures; Duodenal ulcer; Ectopic kidney; Elbow dislocation; Epicanthus; Facial hypertrichosis; Failure to thrive; Feeding difficulties in infancy; Gastric ulcer; Generalized hirsutism; Global developmental delay; Hearing impairment; Hemangioma; High palate; Hydronephrosis; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplastic fifth fingernail; Hypospadias; Hypotelorism; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intestinal malrotation; Intrauterine growth retardation; Intussusception; Joint hyperflexibility; Joint laxity; Kyphosis; Long eyelashes; Low-set ears; Low-set, posteriorly rotated ears; Lumbosacral hirsutism; Malar flattening; Microcephaly; Muscular hypotonia; Myopia; Nystagmus; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Phenotypic variability; Plagiocephaly; Posteriorly rotated ears; Postnatal growth retardation; Preauricular skin tag; Prominent interphalangeal joints; Ptosis; Recurrent respiratory infections; Renal hypoplasia; Sacral dimple; Scoliosis; Seizures; Sensorineural hearing impairment; Severe expressive language delay; Short distal phalanx of finger; Short distal phalanx of the 5th finger; Short distal phalanx of the 5th toe; Short stature; Short sternum; Single transverse palmar crease; Slow-growing hair; Sparse scalp hair; Spina bifida occulta; Strabismus; Tetralogy of Fallot; Thick eyebrow; Thick lower lip vermilion; Thin upper lip vermilion; Umbilical hernia; Ventricular septal defect; Visual impairment; Wide mouth; Wide nasal bridge
ARID212q12100%gene with protein product609539Abnormality of cardiovascular system morphology; Abnormality of the dentition; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Depressed nasal bridge; Depressed nasal ridge; Elbow dislocation; Feeding difficulties in infancy; Generalized hirsutism; Global developmental delay; Hearing impairment; Hypoplastic fifth fingernail; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Long eyelashes; Microcephaly; Muscular hypotonia; Nystagmus; Recurrent respiratory infections; Scoliosis; Seizures; Short distal phalanx of finger; Short stature; Slow-growing hair; Strabismus; Thick eyebrow; Thick lower lip vermilion; Wide mouth; Wide nasal bridge
ARL13B3q11.1-q11.2100%gene with protein product608922ARL2L1Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Intellectual disability; Long face; Molar tooth sign on MRI; Muscular hypotonia; Nystagmus; Obesity; Oculomotor apraxia; Optic disc pallor; Pigmentary retinopathyHeterotaxy
ARL13B3q11.1-q11.2100%gene with protein product608922ARL2L1Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Intellectual disability; Long face; Molar tooth sign on MRI; Muscular hypotonia; Nystagmus; Obesity; Oculomotor apraxia; Optic disc pallor; Pigmentary retinopathyHeterotaxy
ARMC92q37.199.99%gene with protein product617612Apnea; Ataxia; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Global developmental delay; Intellectual disability; Long face; Muscular hypotonia; Nystagmus; Oculomotor apraxia
ARVCF22q11.21100%gene with protein product602269Abnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prominent nasal bridge; Ptosis; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
ARXXp21.399.72%gene with protein product300382MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87Abnormal hair pattern; Abnormality of skin morphology; Abnormality of the hip bone; Abnormally large globe; Agenesis of corpus callosum; Ambiguous genitalia; Broad alveolar ridges; Choreoathetosis; Coarse facial features; Cryptorchidism; Death in infancy; Decreased testicular size; Delayed speech and language development; Developmental regression; Diarrhea; Duane anomaly; Dysarthria; Dysphagia; Dyspnea; Dystonia; EEG abnormality; Epileptic encephalopathy; Feeding difficulties in infancy; Flexion contracture; Focal dystonia; Generalized hirsutism; Generalized hypotonia; Generalized myoclonic seizures; Gliosis; Global developmental delay; Hemiplegia; High forehead; High palate; Hirsutism; Hyperconvex nail; Hyperreflexia; Hypohidrosis; Hypoplasia of penis; Hypospadias; Hypsarrhythmia; Infantile spasms; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb dystonia; Limb joint contracture; Lissencephaly; Long philtrum; Long upper lip; Low anterior hairline; Low-set ears; Lower limb spasticity; Malabsorption; Microcephaly; Micrognathia; Micropenis; Muscle stiffness; Muscular hypotonia; Muscular hypotonia of the trunk; Myoclonus; Neonatal hypotonia; Nystagmus; Optic atrophy; Overlapping toe; Pachygyria; Profound global developmental delay; Prominent nasal bridge; Prominent supraorbital ridges; Protruding ear; Renal dysplasia; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short stature; Spastic tetraplegia; Spasticity; Specific learning disability; Status epilepticus; Strabismus; Synophrys; Tapered finger; Tetraplegia; Thin upper lip vermilion; Triangular face; Ventriculomegaly; Visual impairment; Wide anterior fontanel; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
ASCL112q23.2100%gene with protein product100790Abnormality of temperature regulation; Abnormality of the cardiovascular system; Abnormality of the mouth; Aganglionic megacolon; Autonomic dysregulation; Autosomal dominant inheritance; Breathing dysregulation; Central hypoventilation; Central sleep apnea; Constipation; Death in infancy; Downslanted palpebral fissures; Dysautonomia; Failure to thrive; Feeding difficulties; Ganglioneuroblastoma; Ganglioneuroma; Gastroesophageal reflux; Hyperhidrosis; Intellectual disability; Low-set ears; Muscular hypotonia; Posteriorly rotated ears; Seizures; Small for gestational age; Strabismus
ASPA17p13.2100%gene with protein product608034Abnormality of visual evoked potentials; Aplasia/Hypoplasia involving the central nervous system; Autosomal recessive inheritance; Blindness; Brain atrophy; CNS demyelination; Coma; Delayed closure of the anterior fontanelle; Delayed speech and language development; Developmental regression; Dysphagia; EEG abnormality; Gastroesophageal reflux; Generalized seizures; Global developmental delay; Hearing impairment; Intellectual disability; Lethargy; Macrocephaly; Mild global developmental delay; Muscular hypotonia; Nystagmus; Opisthotonus; Optic atrophy; Seizures; Sleep disturbance; Spasticity; Visual loss
ASPA17p13.2100%gene with protein product608034Abnormality of visual evoked potentials; Aplasia/Hypoplasia involving the central nervous system; Autosomal recessive inheritance; Blindness; Brain atrophy; CNS demyelination; Coma; Delayed closure of the anterior fontanelle; Delayed speech and language development; Developmental regression; Dysphagia; EEG abnormality; Gastroesophageal reflux; Generalized seizures; Global developmental delay; Hearing impairment; Intellectual disability; Lethargy; Macrocephaly; Mild global developmental delay; Muscular hypotonia; Nystagmus; Opisthotonus; Optic atrophy; Seizures; Sleep disturbance; Spasticity; Visual loss
ATP6V0A212q24.31100%gene with protein product611716Abnormal apolipoprotein level; Abnormal isoelectric focusing of serum transferrin; Abnormal subcutaneous fat tissue distribution; Abnormality of the cheek; Anteverted nares; Atrial septal dilatation; Autosomal recessive inheritance; Broad nasal tip; Carious teeth; Cerebellar hypoplasia; Coarse hair; Congenital hip dislocation; Coxa vara; Cryptorchidism; Cutis laxa; Dandy-Walker malformation; Decreased muscle mass; Deep palmar crease; Deep plantar creases; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dementia; Downslanted palpebral fissures; Epicanthus; Excessive skin wrinkling on dorsum of hands and fingers; Excessive wrinkled skin; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Fragile nails; Fragmented elastic fibers in the dermis; Frontal bossing; Generalized hypotonia; Generalized joint laxity; Global developmental delay; High myopia; High nonceruloplasmin-bound serum copper; High palate; Hypertelorism; Hypoplasia of the musculature; Infantile muscular hypotonia; Inguinal hernia; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Joint hypermobility; Kyphoscoliosis; Kyphosis; Lipodystrophy; Lissencephaly; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Microdontia; Midface retrusion; Motor delay; Multiple palmar creases; Multiple plantar creases; Muscular hypotonia; Myopia; Narrow mouth; Nasal speech; Neonatal wrinkled skin of hands and feet; Osteopenia; Pachygyria; Palmoplantar cutis laxa; Pectus excavatum; Pes planus; Polymicrogyria; Poor speech; Postnatal growth retardation; Premature rupture of membranes; Progressive cerebellar ataxia; Progressive microcephaly; Prominent nasolabial fold; Prominent veins on trunk; Psychomotor deterioration; Recurrent sinopulmonary infections; Redundant neck skin; Redundant skin; Scapular winging; Scoliosis; Seizures; Short nail; Short nose; Short stature; Slender long bone; Slender long bones with narrow diaphyses; Slurred speech; Small, conical teeth; Smooth philtrum; Sparse hair; Spasticity; Status epilepticus; Strabismus; Subretinal pigment epithelium hemorrhage; Talipes equinovarus; Thick cerebral cortex; Thick hair; Umbilical hernia; Wide anterior fontanel; Wide nasal bridge; Wormian bones
ATP7AXq21.199.98%gene with protein product300011MNKAbnormal carotid artery morphology; Abnormal peripheral nervous system morphology; Abnormality of the face; Abnormality of the metaphysis; Abnormality of the palate; Abnormality of the sense of smell; Abnormality of the wrist; Aplasia/Hypoplasia of the abdominal wall musculature; Arterial stenosis; Atypical scarring of skin; Behavioral abnormality; Bladder carcinoma; Bladder diverticulum; Brachycephaly; Brachydactyly; Broad clavicles; Broad ribs; Bruising susceptibility; Capitate-hamate fusion; Carotid artery tortuosity; Cerebral calcification; Chronic diarrhea; Coarse hair; Convex nasal ridge; Coxa valga; Cutis laxa; Death in childhood; Delayed cranial suture closure; Developmental regression; Dilatation; Distal amyotrophy; Distal muscle weakness; Dry skin; Dysphagia; EMG: neuropathic changes; Esophagitis; Exostoses; Fatigue; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Gastroparesis; Genu valgum; Global developmental delay; Hepatitis; Hiatus hernia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperextensible skin; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Hypothermia; Inguinal hernia; Intellectual disability; Intracranial hemorrhage; Intrauterine growth retardation; Jaundice; Joint hyperflexibility; Joint laxity; Juvenile onset; Keloids; Kyphosis; Large fontanelles; Limited elbow extension; Limited knee extension; Long face; Long neck; Long philtrum; Malabsorption; Mask-like facies; Metaphyseal spurs; Metaphyseal widening; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Narrow chest; Narrow face; Nausea and vomiting; Orthostatic hypotension; Osteomalacia; Osteopenia; Osteoporosis; Pectus carinatum; Pectus excavatum; Pelvic bone exostoses; Persistent open anterior fontanelle; Pes cavus; Pes planus; Platyspondyly; Poor suck; Prolonged neonatal jaundice; Prominent occiput; Redundant skin; Rickets; Seizures; Short clavicles; Short humerus; Short palm; Short stature; Slow progression; Soft skin; Sparse hair; Spasticity; Specific learning disability; Spinal muscular atrophy; Synostosis of joints; Thickened skin; Umbilical hernia; Unsteady gait; Ureteral obstruction; Venous insufficiency; Woolly hair; Wormian bones; X-linked recessive inheritance
ATP7AXq21.199.98%gene with protein product300011MNKAbnormal carotid artery morphology; Abnormal peripheral nervous system morphology; Abnormality of the face; Abnormality of the metaphysis; Abnormality of the palate; Abnormality of the sense of smell; Abnormality of the wrist; Aplasia/Hypoplasia of the abdominal wall musculature; Arterial stenosis; Atypical scarring of skin; Behavioral abnormality; Bladder carcinoma; Bladder diverticulum; Brachycephaly; Brachydactyly; Broad clavicles; Broad ribs; Bruising susceptibility; Capitate-hamate fusion; Carotid artery tortuosity; Cerebral calcification; Chronic diarrhea; Coarse hair; Convex nasal ridge; Coxa valga; Cutis laxa; Death in childhood; Delayed cranial suture closure; Developmental regression; Dilatation; Distal amyotrophy; Distal muscle weakness; Dry skin; Dysphagia; EMG: neuropathic changes; Esophagitis; Exostoses; Fatigue; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Gastroparesis; Genu valgum; Global developmental delay; Hepatitis; Hiatus hernia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperextensible skin; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Hypothermia; Inguinal hernia; Intellectual disability; Intracranial hemorrhage; Intrauterine growth retardation; Jaundice; Joint hyperflexibility; Joint laxity; Juvenile onset; Keloids; Kyphosis; Large fontanelles; Limited elbow extension; Limited knee extension; Long face; Long neck; Long philtrum; Malabsorption; Mask-like facies; Metaphyseal spurs; Metaphyseal widening; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Narrow chest; Narrow face; Nausea and vomiting; Orthostatic hypotension; Osteomalacia; Osteopenia; Osteoporosis; Pectus carinatum; Pectus excavatum; Pelvic bone exostoses; Persistent open anterior fontanelle; Pes cavus; Pes planus; Platyspondyly; Poor suck; Prolonged neonatal jaundice; Prominent occiput; Redundant skin; Rickets; Seizures; Short clavicles; Short humerus; Short palm; Short stature; Slow progression; Soft skin; Sparse hair; Spasticity; Specific learning disability; Spinal muscular atrophy; Synostosis of joints; Thickened skin; Umbilical hernia; Unsteady gait; Ureteral obstruction; Venous insufficiency; Woolly hair; Wormian bones; X-linked recessive inheritance
ATP8A213q12.1399.82%gene with protein product605870Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Cerebral palsy; Congenital onset; Corpus callosum atrophy; Dysarthria; Gait disturbance; Hyperreflexia; Inability to walk; Intellectual disability; Muscular hypotonia; Seizures; Short stature; Skeletal muscle atrophy; Strabismus; Truncal ataxia
ATRXXq21.199.92%gene with protein product300032, 300504RAD54, JMS, MRX52Abnormal hemoglobin; Abnormality of blood and blood-forming tissues; Abnormality of fontanelles; Abnormality of metabolism/homeostasis; Absent frontal sinuses; Ambiguous genitalia; Anorexia; Anteverted nares; Autism; Brachydactyly; Bruising susceptibility; Cerebral atrophy; Clinodactyly; Coarse facial features; Constipation; Coxa valga; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Drooling; Dysphasia; Dyspnea; Epicanthus; Episodic abdominal pain; Everted lower lip vermilion; Exotropia; Fatigue; Flat face; Gastroesophageal reflux; Genu valgum; Global developmental delay; Hemivertebrae; Hemoglobin H; High palate; Hydronephrosis; Hyperactivity; Hyperreflexia; Hypertelorism; Hypochromic microcytic anemia; Hypogonadism; Hypoplasia of penis; Hypoplastic philtrum; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intermittent diarrhea; Iron deficiency anemia; Kyphoscoliosis; Low-set ears; Lower limb hypertonia; Macroglossia; Malar flattening; Male pseudohermaphroditism; Microcephaly; Microcytic anemia; Micrognathia; Micropenis; Microtia; Midface retrusion; Muscular hypotonia; Myelodysplasia; Narrow forehead; Nausea and vomiting; Neutropenia; Open mouth; Optic atrophy; Paroxysmal bursts of laughter; Perimembranous ventricular septal defect; Pes planus; Phenotypic variability; Poor appetite; Posteriorly rotated ears; Postnatal growth retardation; Profound global developmental delay; Protruding tongue; Ptosis; Radial deviation of finger; Reduced alpha/beta synthesis ratio; Renal agenesis; Renal hypoplasia; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Shawl scrotum; Short neck; Short nose; Short stature; Short upper lip; Slender finger; Spasticity; Talipes calcaneovalgus; Talipes equinovarus; Tapered finger; Telecanthus; Tented upper lip vermilion; Thick lower lip vermilion; Thin upper lip vermilion; Thrombocytopenia; Triangular nasal tip; U-Shaped upper lip vermilion; Umbilical hernia; Upslanted palpebral fissure; Vesicoureteral reflux; Vomiting; Weight loss; Wide mouth; Wide nasal bridge; Widely-spaced maxillary central incisors; X-linked dominant inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
B3GALNT21q42.399.76%gene with protein product610194Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Blindness; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Gait disturbance; Glaucoma; Global developmental delay; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the pons; Hyporeflexia; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Polymicrogyria; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Specific learning disability; Strabismus; Type II lissencephaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
B3GALNT21q42.399.76%gene with protein product610194Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Blindness; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Gait disturbance; Glaucoma; Global developmental delay; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the pons; Hyporeflexia; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Polymicrogyria; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Specific learning disability; Strabismus; Type II lissencephaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
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
B4GALT19p21.1100%gene with protein product137060GGTB2Abnormality of coagulation; Autosomal recessive inheritance; Dandy-Walker malformation; Elevated serum creatine phosphokinase; Generalized hypotonia; Global developmental delay; Hydrocephalus; Macrocephaly; Muscular hypotonia; Myopathy
B4GALT75q35.3100%gene with protein product604327Abnormal facial shape; Abnormality of skin pigmentation; Absent earlobe; Accelerated skeletal maturation; Aortic valve stenosis; Arachnodactyly; Atrophic scars; Autosomal recessive inheritance; Bifid uvula; Bowing of the long bones; Coxa valga; Cryptorchidism; Cutis laxa; Epicanthus; Failure to thrive; Flexion contracture; Generalized hypotonia; Gingivitis; Global developmental delay; Hyperextensible skin; Joint laxity; Lipodystrophy; Long toe; Low-set ears; Macrocephaly; Midface retrusion; Muscular hypotonia; Narrow chest; Narrow mouth; Osteopenia; Palmoplantar cutis gyrata; Pectus carinatum; Pes planus; Progeroid facial appearance; Proptosis; Pulmonic stenosis; Radioulnar synostosis; Short clavicles; Short stature; Single transverse palmar crease; Skeletal dysplasia; Skeletal muscle atrophy; Slender toe; Small face; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Telecanthus; Testicular torsion; Thin skin; Wide nasal bridge
B4GAT111q13.2100%gene with protein productFormer name = B3GNT1605517B3GNT6, B3GNT1Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Agenesis of corpus callosum; Anencephaly; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Blindness; Cerebellar hypoplasia; Chorioretinal dysplasia; Congenital onset; Corneal opacity; Cortical dysplasia; Cryptorchidism; Dandy-Walker malformation; Elevated serum creatine phosphokinase; Glaucoma; Global developmental delay; Hydrocephalus; Hydronephrosis; Hypoplasia of penis; Hypoplasia of the brainstem; Hyporeflexia; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Micropenis; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Occipital encephalocele; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Pachygyria; Polymicrogyria; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Spasticity; Specific learning disability; Type II lissencephalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
B9D117p11.2100%gene with protein product614144Abnormal chorioretinal morphology; Abnormality of the posterior cranial fossa; Ambiguous genitalia; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypertelorism; Intellectual disability; Limb undergrowth; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Sloping forehead; Talipes; Talipes equinovarusHeterotaxy
BAZ1B7q11.23100%gene with protein product605681WBSCR9, WBSCR10Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
BMPER7p14.3100%gene with protein product608699Abnormal liver lobulation; Abnormal vertebral segmentation and fusion; Absent in utero ossification of vertebral bodies; Absent in utero rib ossification; Absent or minimally ossified vertebral bodies; Autosomal recessive inheritance; Bell-shaped thorax; Cleft palate; Cystic renal dysplasia; Depressed nasal bridge; Depressed nasal ridge; Disproportionate short-trunk short stature; Enlarged kidney; Enlarged thorax; Epicanthus; Generalized hypotonia; Global developmental delay; Hammertoe; Hypertelorism; Hypoplastic fingernail; Increased nuchal translucency; Inguinal hernia; Intrauterine growth retardation; Large fontanelles; Low-set ears; Lumbosacral meningocele; Micrognathia; Missing ribs; Multiple renal cysts; Muscular hypotonia; Myelomeningocele; Narrow pelvis bone; Nephroblastomatosis; Nephrogenic rest; Oligohydramnios; Polymicrogyria; Protuberant abdomen; Pulmonary hypoplasia; Respiratory distress; Respiratory insufficiency; Short neck; Short nose; Short thorax; Talipes equinovarus; Thoracic hypoplasia; Tracheomalacia; Unossified sacrum; Vertebral segmentation defect; Webbed neck
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
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
BTD3p25.1100%gene with protein product609019Alopecia; Apnea; Ataxia; Autosomal recessive inheritance; Conjunctivitis; Desquamation of skin soon after birth; Diarrhea; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Feeding difficulties in infancy; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hearing impairment; Hepatomegaly; Hyperammonemia; Keratoconjunctivitis; Lethargy; Metabolic ketoacidosis; Muscular hypotonia; Optic atrophy; Organic aciduria; Perioral eczema; Recurrent skin infections; Seborrheic dermatitis; Seizures; Sensorineural hearing impairment; Skin rash; Splenomegaly; Tachypnea; Visual loss; Vomiting
CA88q12.199.93%gene with protein product114815CALSAtaxia; Autosomal recessive inheritance; Cerebral palsy; Congenital onset; Dysarthria; Gait disturbance; Hyperreflexia; Intellectual disability; Intellectual disability, mild; Muscular hypotonia; Seizures; Short stature; Skeletal muscle atrophy; Slurred speech; Strabismus; Tremor
CAMKMT2p21100%gene with protein product609559C2orf34Cystinuria; Depressed nasal bridge; Failure to thrive; Frontal bossing; Global developmental delay; Growth delay; Hypocalcemia; Hypogonadism; Intellectual disability, moderate; Lactic acidosis; Long eyelashes; Low-set, posteriorly rotated ears; Mitochondrial respiratory chain defects; Muscular hypotonia; Nasal speech; Nephrolithiasis; Seizures
CASR3q13.33-q21.100%gene with protein product601199HHC, HHC1Abdominal pain; Abnormal enzyme/coenzyme activity; Abnormal pattern of respiration; Abnormal renal physiology; Abnormality of calcium-phosphate metabolism; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the thyroid gland; Alopecia; Aminoaciduria; Anemia; Anxiety; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Calcinosis; Constipation; Cortical myoclonus; Depressivity; Dry skin; Dyspnea; Elevated C-reactive protein level; Elevated circulating parathyroid hormone level; EMG abnormality; Emotional lability; Failure to thrive; Fatigable weakness; Feeding difficulties in infancy; Generalized hypotonia; Hepatomegaly; Hypercalcemia; Hypercalciuria; Hypermagnesemia; Hypermagnesiuria; Hyperparathyroidism; Hyperphosphatemia; Hyperphosphaturia; Hypocalcemia; Hypocalciuria; Hypomagnesemia; Hypophosphatemia; Hypotension; Leukocytosis; Metaphyseal irregularity; Muscle cramps; Muscular hypotonia; Narrow chest; Nephrocalcinosis; Nephrolithiasis; Pancreatitis; Paresthesia; Polydipsia; Polyuria; Primary hyperparathyroidism; Recurrent fractures; Recurrent pancreatitis; Seizures; Short stature; Splenomegaly; Tachypnea; Tetany
CC2D2A4p15.3299.94%gene with protein product612013Abnormal chorioretinal morphology; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Astigmatism; Ataxia; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Cystic liver disease; Depressed nasal ridge; Elevated hepatic transaminases; Encephalocele; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Pulmonary hypoplasia; Renal cyst; Renal insufficiency; Retinal dystrophy; Rod-cone dystrophy; Round face; Sclerocornea; Sloping forehead; Spasticity; Splenomegaly; Tachypnea; Talipes; Talipes equinovarus; Ventriculomegaly; Visual impairment; Wide mouthHeterotaxy
CC2D2A4p15.3299.94%gene with protein product612013Abnormal chorioretinal morphology; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Astigmatism; Ataxia; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Cystic liver disease; Depressed nasal ridge; Elevated hepatic transaminases; Encephalocele; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Pulmonary hypoplasia; Renal cyst; Renal insufficiency; Retinal dystrophy; Rod-cone dystrophy; Round face; Sclerocornea; Sloping forehead; Spasticity; Splenomegaly; Tachypnea; Talipes; Talipes equinovarus; Ventriculomegaly; Visual impairment; Wide mouthHeterotaxy
CCDC22Xp11.2399.94%gene with protein product300859CXorf37Abnormal mitral valve morphology; Abnormal tricuspid valve morphology; Abnormality of the fontanelles or cranial sutures; Aortic valve stenosis; Aplasia/Hypoplasia of the cerebellum; Atrial septal defect; Atrioventricular canal defect; Broad forehead; Broad hallux; Broad neck; Camptodactyly; Cerebellar hypoplasia; Cleft palate; Clinodactyly; Cryptorchidism; Dandy-Walker malformation; Death in infancy; Depressed nasal bridge; Downslanted palpebral fissures; Frontal bossing; Generalized hypotonia; Global developmental delay; High, narrow palate; Hydrocephalus; Hypertelorism; Hypoplastic left heart; Intellectual disability; Kyphosis; Low posterior hairline; Low-set ears; Macrocephaly; Muscular hypotonia; Neurological speech impairment; Overlapping toe; Patent ductus arteriosus; Poor speech; Prominent occiput; Protruding tongue; Pulmonic stenosis; Recurrent respiratory infections; Scoliosis; Short distal phalanx of finger; Short nose; Short philtrum; Short stature; Syndactyly; Tetralogy of Fallot; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge; X-linked recessive inheritance
CD963q13.13-q13.99.8%gene with protein product606037Abnormality of cardiovascular system morphology; Abnormality of immune system physiology; Abnormality of the anus; Accessory oral frenulum; Anteverted nares; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Biparietal narrowing; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cryptorchidism; Cutis laxa; Delayed skeletal maturation; Depressed nasal bridge; Dislocated radial head; Epicanthus; Failure to thrive; Failure to thrive in infancy; Female pseudohermaphroditism; Fused sternal ossification centers; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hepatomegaly; High palate; Hip dislocation; Hypoplasia of the ear cartilage; Intellectual disability; Limitation of joint mobility; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micromelia; Midline facial capillary hemangioma; Muscular hypotonia; Omphalocele; Patent ductus arteriosus; Pectus excavatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Radial deviation of finger; Redundant skin; Renal cortical cysts; Sacral dimple; Scoliosis; Seizures; Short metacarpal; Short neck; Short nose; Short stature; Smooth philtrum; Strabismus; Talipes; Thick anterior alveolar ridges; Thin vermilion border; Toe syndactyly; Trigonocephaly; Ulnar deviation of finger; Upslanted palpebral fissure; Ventricular septal defect; Wide mouth; Wide nasal bridge
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
CEP1041p36.32100%gene with protein product616690KIAA0562Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Global developmental delay; Infantile onset; Intellectual disability; Long face; Muscular hypotonia; Nystagmus; Oculomotor apraxia
CEP1205q23.2100%gene with protein product613446CCDC100Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Ambiguous genitalia; Apnea; Ataxia; Autosomal recessive inheritance; Bell-shaped thorax; Biparietal narrowing; Brachydactyly; Cerebellar vermis hypoplasia; Coarse facial features; Cone-shaped epiphysis; Cryptorchidism; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Flat acetabular roof; Gait disturbance; Global developmental delay; Horizontal ribs; Hypertelorism; Hypoplastic facial bones; Hypoplastic pelvis; Intellectual disability; Long face; Macrotia; Micromelia; Microretrognathia; Midface retrusion; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Natal tooth; Nystagmus; Oculomotor apraxia; Omphalocele; Patent ductus arteriosus; Preaxial polydactyly; Prominent nose; Pulmonary hypoplasia; Relative macrocephaly; Renal hypoplasia; Respiratory insufficiency; Retinal dystrophy; Short foot; Short ribs; Short thorax; Skeletal dysplasia; Unicoronal synostosisShort-Rib Thoracic Dysplasia
CEP1205q23.2100%gene with protein product613446CCDC100Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Ambiguous genitalia; Apnea; Ataxia; Autosomal recessive inheritance; Bell-shaped thorax; Biparietal narrowing; Brachydactyly; Cerebellar vermis hypoplasia; Coarse facial features; Cone-shaped epiphysis; Cryptorchidism; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Flat acetabular roof; Gait disturbance; Global developmental delay; Horizontal ribs; Hypertelorism; Hypoplastic facial bones; Hypoplastic pelvis; Intellectual disability; Long face; Macrotia; Micromelia; Microretrognathia; Midface retrusion; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Natal tooth; Nystagmus; Oculomotor apraxia; Omphalocele; Patent ductus arteriosus; Preaxial polydactyly; Prominent nose; Pulmonary hypoplasia; Relative macrocephaly; Renal hypoplasia; Respiratory insufficiency; Retinal dystrophy; Short foot; Short ribs; Short thorax; Skeletal dysplasia; Unicoronal synostosisShort-Rib Thoracic Dysplasia
CEP29012q21.3298.28%gene with protein product610142Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the nervous system; Abnormality of the optic disc; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the cerebellar vermis; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Atrial septal defect; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital blindness; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Encephalocele; Episodic tachypnea; Full cheeks; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the ovary; Hyposmia; Impaired renal concentrating ability; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Keratoconus; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pigmentary retinopathy; Postaxial foot polydactyly; Postaxial hand polydactyly; Premature ovarian insufficiency; Progressive visual loss; Ptosis; Reduced visual acuity; Renal cortical cysts; Renal cyst; Retinal coloboma; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Seizures; Severe visual impairment; Short stature; Sloping forehead; Stage 5 chronic kidney disease; Tachypnea; Talipes; Tapetoretinal degeneration; Thickened superior cerebellar peduncle; Ventricular septal defect; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
CEP29012q21.3298.28%gene with protein product610142Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the nervous system; Abnormality of the optic disc; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the cerebellar vermis; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Atrial septal defect; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital blindness; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Encephalocele; Episodic tachypnea; Full cheeks; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the ovary; Hyposmia; Impaired renal concentrating ability; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Keratoconus; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pigmentary retinopathy; Postaxial foot polydactyly; Postaxial hand polydactyly; Premature ovarian insufficiency; Progressive visual loss; Ptosis; Reduced visual acuity; Renal cortical cysts; Renal cyst; Retinal coloboma; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Seizures; Severe visual impairment; Short stature; Sloping forehead; Stage 5 chronic kidney disease; Tachypnea; Talipes; Tapetoretinal degeneration; Thickened superior cerebellar peduncle; Ventricular septal defect; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
CEP417q32.299.99%gene with protein product610523TSGA14Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Intellectual disability; Long face; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Polydactyly; Retinal dystrophyDisorders of Sex Development; Heterotaxy
CEP417q32.299.99%gene with protein product610523TSGA14Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Intellectual disability; Long face; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Polydactyly; Retinal dystrophyDisorders of Sex Development; Heterotaxy
CFL214q13.199.88%gene with protein product601443Areflexia; Autosomal recessive inheritance; Delayed gross motor development; Gait disturbance; Generalized hypotonia; Gowers sign; High palate; Joint hypermobility; Minicore myopathy; Muscle weakness; Muscular hypotonia; Neck muscle weakness; Nemaline bodies; Slow progression
CHD78q12.2100%gene with protein product608892CRGAbnormal aortic valve morphology; Abnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormality of body height; Abnormality of female internal genitalia; Abnormality of the soft palate; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Alopecia; Anophthalmia; Anosmia; Anterior hypopituitarism; Anxiety; Aortic arch aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thymus; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bifid scrotum; Breast hypoplasia; Choanal atresia; Chorioretinal coloboma; Chronic diarrhea; Cleft lip; Cleft palate; Cleft upper lip; Coloboma; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed eruption of teeth; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dimple chin; Double outlet right ventricle; Downslanted palpebral fissures; Dry skin; Duodenal atresia; Dysphagia; Edema; Eosinophilia; Erectile abnormalities; Erythroderma; Esophageal atresia; Eunuchoid habitus; External ear malformation; Facial asymmetry; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Female hypogonadism; Fever; Gastroesophageal reflux; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hearing impairment; Hepatomegaly; Horseshoe kidney; Hydronephrosis; Hypocalcemia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the semicircular canal; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Impotence; Increased female libido; Intellectual disability; Interrupted aortic arch; Iris coloboma; Labial hypoplasia; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphopenia; Malar flattening; Male hypogonadism; Micropenis; Microphthalmia; Muscular hypotonia; Narrow face; Narrow mouth; Non-obstructive azoospermia; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Osteopenia; Osteoporosis; Overfolded helix; Parathyroid hypoplasia; Patent ductus arteriosus; Phenotypic variability; Pneumonia; Polyhydramnios; Posterior choanal atresia; Postnatal growth retardation; Primary amenorrhea; Pruritus; Ptosis; Pulmonic stenosis; Reduced bone mineral density; Secondary amenorrhea; Sensorineural hearing impairment; Severe combined immunodeficiency; Short stature; Sparse body hair; Splenomegaly; Sporadic; Square face; Strabismus; Tetralogy of Fallot; Thickened skin; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Wide intermamillary distanceDisorders of Sex Development; VACTERL Association
CHRNB117p13.1100%gene with protein product100710CHRNBAutosomal dominant inheritance; Autosomal recessive inheritance; Congenital onset; Easy fatigability; Facial palsy; Feeding difficulties; High palate; Long face; Muscle weakness; Muscular hypotonia; Narrow face; Neonatal hypotonia; Ophthalmoplegia; Ptosis; Respiratory insufficiency; Skeletal muscle atrophy
CHRNB117p13.1100%gene with protein product100710CHRNBAutosomal dominant inheritance; Autosomal recessive inheritance; Congenital onset; Easy fatigability; Facial palsy; Feeding difficulties; High palate; Long face; Muscle weakness; Muscular hypotonia; Narrow face; Neonatal hypotonia; Ophthalmoplegia; Ptosis; Respiratory insufficiency; Skeletal muscle atrophy
CHRND2q37.1100%gene with protein product100720ACHRDAbnormal cervical curvature; Abnormal facial shape; Akinesia; Amyoplasia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cleft palate; Congenital onset; Cystic hygroma; Depressed nasal ridge; Dysphagia; Easy fatigability; Edema; Epicanthus; Facial palsy; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Generalized hypotonia; Generalized muscle weakness; High palate; Hypertelorism; Hypoplastic heart; Inability to walk; Increased susceptibility to fractures; Infantile onset; Intrauterine growth retardation; Joint dislocation; Low-set ears; Malignant hyperthermia; Micrognathia; Multiple pterygia; Muscular hypotonia; Neck muscle weakness; Neonatal hypotonia; Ophthalmoplegia; Polyhydramnios; Progressive; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Short finger; Thin ribs; Vertebral fusion
CHRND2q37.1100%gene with protein product100720ACHRDAbnormal cervical curvature; Abnormal facial shape; Akinesia; Amyoplasia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cleft palate; Congenital onset; Cystic hygroma; Depressed nasal ridge; Dysphagia; Easy fatigability; Edema; Epicanthus; Facial palsy; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Generalized hypotonia; Generalized muscle weakness; High palate; Hypertelorism; Hypoplastic heart; Inability to walk; Increased susceptibility to fractures; Infantile onset; Intrauterine growth retardation; Joint dislocation; Low-set ears; Malignant hyperthermia; Micrognathia; Multiple pterygia; Muscular hypotonia; Neck muscle weakness; Neonatal hypotonia; Ophthalmoplegia; Polyhydramnios; Progressive; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Short finger; Thin ribs; Vertebral fusion
CHRNE17p13.2100%gene with protein product100725Abnormality of the immune system; Apneic episodes precipitated by illness, fatigue, stress; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Congenital onset; Decreased fetal movement; Decreased miniature endplate potentials; Decreased muscle mass; Decreased size of nerve terminals; Dental malocclusion; Dysarthria; Dysphagia; Easy fatigability; EMG: decremental response of compound muscle action potential to repetitive nerve stimulation; Facial palsy; Fatigable weakness; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Generalized hypotonia due to defect at the neuromuscular junction; Gowers sign; High palate; Infantile onset; Limb muscle weakness; Long face; Mandibular prognathia; Motor delay; Muscle cramps; Muscular hypotonia; Neck muscle weakness; Neonatal hypotonia; Nonprogressive; Ophthalmoparesis; Ophthalmoplegia; Poor suck; Ptosis; Respiratory distress; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Strabismus; Sudden episodic apnea; Type 2 muscle fiber atrophy; Variable expressivity; Weak cry
CHRNE17p13.2100%gene with protein product100725Abnormality of the immune system; Apneic episodes precipitated by illness, fatigue, stress; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Congenital onset; Decreased fetal movement; Decreased miniature endplate potentials; Decreased muscle mass; Decreased size of nerve terminals; Dental malocclusion; Dysarthria; Dysphagia; Easy fatigability; EMG: decremental response of compound muscle action potential to repetitive nerve stimulation; Facial palsy; Fatigable weakness; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Generalized hypotonia due to defect at the neuromuscular junction; Gowers sign; High palate; Infantile onset; Limb muscle weakness; Long face; Mandibular prognathia; Motor delay; Muscle cramps; Muscular hypotonia; Neck muscle weakness; Neonatal hypotonia; Nonprogressive; Ophthalmoparesis; Ophthalmoplegia; Poor suck; Ptosis; Respiratory distress; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Strabismus; Sudden episodic apnea; Type 2 muscle fiber atrophy; Variable expressivity; Weak cry
CLIP27q11.23100%gene with protein product603432WBSCR4, CYLN2, WBSCR3Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
CLPB11q13.4100%gene with protein product616254Abnormal pyramidal signs; Abnormality of extrapyramidal motor function; Autosomal recessive inheritance; Cataract; Cerebellar atrophy; Cerebral atrophy; Congenital onset; Feeding difficulties; Global developmental delay; Growth delay; Intellectual disability; Microcephaly; Muscular hypotonia; Neonatal hypotonia; Neutropenia; Phenotypic variability; Progressive; Spasticity
CNTNAP117q21.2100%gene with protein product602346NRXN4Areflexia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; EMG abnormality; Facial diplegia; Fetal akinesia sequence; Generalized hypotonia; Knee flexion contracture; Limitation of joint mobility; Muscular hypotonia; Oral-pharyngeal dysphagia; Polyhydramnios; Reduced tendon reflexes; Respiratory distress
COA61q42.2100%gene with protein product614772C1orf31Autosomal recessive inheritance; Hypertrophic cardiomyopathy; Lactic acidosis; Left ventricular noncompaction; Muscular hypotonia; Short chin
COG117q25.1100%gene with protein product606973LDLBAbnormal isoelectric focusing of serum transferrin; Autosomal recessive inheritance; Butterfly vertebrae; Failure to thrive in infancy; Global developmental delay; Low-set, posteriorly rotated ears; Muscular hypotonia; Osteopenia; Postnatal growth retardation; Progressive microcephaly; Rhizomelia; Smooth philtrum; Talipes equinovarus; Vertebral segmentation defect
COG57q22.399.99%gene with protein product606821GOLTC1Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Cerebellar atrophy; Intellectual disability; Muscular hypotonia; Truncal ataxia; Type I transferrin isoform profile
COG716p12.299.92%gene with protein product606978Abnormality of immune system physiology; Hypertrophic cardiomyopathy; Muscular hypotonia
COG816q22.1100%gene with protein product606979Alternating esotropia; Autosomal recessive inheritance; Cerebellar atrophy; Elevated serum creatine phosphokinase; Elevated serum transaminases during infections; Encephalopathy; Intellectual disability; Muscular hypotonia; Status epilepticus; Ventriculomegaly
COL12A16q13-q14.1100%gene with protein product120320COL12A1LAbnormality of the palate; Adducted thumb; Areflexia; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Decreased fetal movement; Diaphragmatic weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Flexion contracture; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Increased endomysial connective tissue; Increased laxity of fingers; Increased variability in muscle fiber diameter; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Long toe; Micrognathia; Motor delay; Muscle weakness; Muscular hypotonia; Myopathy; Pes valgus; Respiratory failure; Respiratory insufficiency; Scoliosis; Short neck; Slender finger; Spinal rigidity; Torticollis
COL4A113q3499.99%gene with protein product120130Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal dominant inheritance; Babinski sign; Blurred vision; Cerebellar atrophy; Cerebellar hypoplasia; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Dilatation of the cerebral artery; Elevated serum creatine phosphokinase; Exotropia; Facial paralysis; Glaucoma; Global developmental delay; Hematuria; Hemiparesis; Hemiplegia; Hemolytic anemia; Hydrocephalus; Hypopigmentation of the fundus; Hypoplasia of penis; Hyporeflexia; Intellectual disability; Ischemic stroke; Leukoencephalopathy; Limb dystonia; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Migraine with aura; Multiple renal cysts; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Nephropathy; Optic atrophy; Pachygyria; Polymicrogyria; Porencephalic cyst; Posterior leukoencephalopathy; Raynaud phenomenon; Renal cyst; Renal insufficiency; Retinal arteriolar tortuosity; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Retinal hemorrhage; Retinal vascular tortuosity; Schizencephaly; Scotoma; Seizures; Skeletal muscle atrophy; Spasticity; Specific learning disability; Supraventricular arrhythmia; Tetraparesis; Variable expressivity; Visual field defect; Visual lossHemolytic Anemia ; Muscular dystropy-dystroglycanopathy (Walker-Warburg)
COMT22q11.21100%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. 116790Abnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prominent nasal bridge; Ptosis; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
COQ716p12.3100%gene with protein product601683Abnormal renal corticomedullary differentiation; Autosomal recessive inheritance; Congenital onset; Elevated serum creatinine; Feeding difficulties; Flexion contracture; Generalized hypotonia; Global developmental delay; Hearing impairment; Intrauterine growth retardation; Motor delay; Muscle weakness; Muscular hypotonia; Oligohydramnios; Pain; Peripheral demyelination; Polyneuropathy; Postnatal growth retardation; Pulmonary hypoplasia; Renal dysplasia; Respiratory distress; Small for gestational age; Visual impairment
CPS12q34100%gene with protein product608307Aminoaciduria; Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Episodic ammonia intoxication; Failure to thrive; Global developmental delay; Hyperammonemia; Hypoargininemia; Intellectual disability; Irritability; Lethargy; Low plasma citrulline; Muscular hypotonia; Protein avoidance; Respiratory alkalosis; Respiratory insufficiency; Seizures; Vomiting
CPT1A11q13.3100%gene with protein product600528CPT1Arrhythmia; Autosomal recessive inheritance; Behavioral abnormality; Cardiomegaly; Coma; Diarrhea; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Fatigue; Feeding difficulties in infancy; Generalized hypotonia; Hemiplegia/hemiparesis; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hyperammonemia; Hypoglycemia; Hypoketotic hypoglycemia; Lethargy; Loss of consciousness; Muscular hypotonia; Neurological speech impairment; Prenatal maternal abnormality; Recurrent encephalopathy; Reduced tendon reflexes; Renal tubular acidosis; Seizures; Skeletal muscle atrophy; Transient hyperlipidemiaRhabdomyolysis
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
CRB11q31.3100%gene with protein product604210RP12Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Encephalocele; Esotropia; Glaucoma; Hemiplegia/hemiparesis; High hypermetropia; Hyperinsulinemia; Hypermetropia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Muscular hypotonia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Paravenous chorioretinal atrophy; Pendular nystagmus; Photophobia; Progressive night blindness; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Undetectable electroretinogram; Visual impairment; Vitreoretinal degeneration; Wide nasal bridge
CREBBP16p13.399.97%gene with protein product600140RSTSAbnormal cornea morphology; Abnormal number of teeth; Abnormality of refraction; Abnormality of the cervical spine; Abnormality of the kidney; Abnormality of the pinna; Aganglionic megacolon; Agenesis of corpus callosum; Agoraphobia; Arrhythmia; Atrial septal defect; Autism; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Bifid uterus; Bimanual synkinesia; Broad hallux; Broad thumb; Cafe-au-lait spot; Capillary hemangiomas; Cataract; Chorioretinal dystrophy; Clinodactyly of the 5th finger; Coloboma; Constipation; Convex nasal ridge; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Dental malocclusion; Deviated nasal septum; Dislocated radial head; Downslanted palpebral fissures; Duane anomaly; Duplication of phalanx of hallux; EEG abnormality; Epicanthus; Facial grimacing; Failure to thrive; Feeding difficulties in infancy; Flared iliac wings; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Glaucoma; Hearing impairment; Heterogeneous; High axial triradius; High palate; Highly arched eyebrow; Hirsutism; Hyperactivity; Hyperreflexia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplastic iliac wing; Hypospadias; Impulsivity; Intellectual disability; Joint hypermobility; Joint laxity; Keloids; Large foramen magnum; Laryngomalacia; Long eyelashes; Low anterior hairline; Low hanging columella; Low posterior hairline; Low-set ears; Microcephaly; Micrognathia; Muscular hypotonia; Narrow mouth; Narrow palate; Nasolacrimal duct obstruction; Obstructive sleep apnea; Papillary cystadenoma of the epididymis; Parietal foramina; Patellar dislocation; Patent ductus arteriosus; Pectus excavatum; Pes planus; Phonophobia; Plantar crease between first and second toes; Polydactyly; Polyhydramnios; Poor coordination; Postnatal growth retardation; Premature thelarche; Prominent fingertip pads; Proptosis; Ptosis; Radial deviation of thumb terminal phalanx; Recurrent upper respiratory tract infections; Respiratory distress; Retrognathia; Scoliosis; Seizures; Self-mutilation; Shawl scrotum; Short attention span; Short stature; Single transverse palmar crease; Spina bifida occulta; Sporadic; Stereotypy; Syndactyly; Talon cusp; Tethered cord; Thick eyebrow; Truncal obesity; Unsteady gait; Variable expressivity; Vascular ring; Ventricular septal defect; Wide anterior fontanel; Wide nasal bridgeDisorders of Sex Development; Obesity
CRX19q13.33100%gene with protein product602225CORD2Abnormal electroretinogram; Abnormality of color vision; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cataract; Chorioretinal atrophy; Conductive hearing impairment; Cone/cone-rod dystrophy; Constriction of peripheral visual field; Encephalocele; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Muscular hypotonia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Pendular nystagmus; Peripheral visual field loss; Photophobia; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Undetectable electroretinogram; Visual impairment; Wide nasal bridge
CSPP18q13.1-q13.299.9%gene with protein product611654Abnormal chorioretinal morphology; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Congenital hepatic fibrosis; Congenital onset; Cryptorchidism; Depressed nasal ridge; Dyspnea; Elongated superior cerebellar peduncle; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypertelorism; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Posterior fossa cyst; Ptosis; Sclerocornea; Sloping forehead; Strabismus; Talipes; Variable expressivityHeterotaxy ; Short-Rib Thoracic Dysplasia
CTNND25p15.299.99%gene with protein product604275Cat cry; Downslanted palpebral fissures; EEG abnormality; Epicanthus; Focal seizures; Generalized seizures; Hand tremor; High palate; High pitched voice; Hypertelorism; Intellectual disability, severe; Intrauterine growth retardation; Low-set, posteriorly rotated ears; Microcephaly; Microretrognathia; Muscular hypotonia; Myoclonus; Round face; Scoliosis; Severe global developmental delay; Short neck; Short stature; Small hand; Wide nasal bridge
CUL4BXq2499.8%gene with protein product300304Abnormal hair pattern; Abnormality of earlobe; Abnormality of the pinna; Absent speech; Aggressive behavior; Blepharophimosis; Broad-based gait; Cachexia; Clinodactyly of the 5th finger; Coarse facial features; Cryptorchidism; Decreased testicular size; Delayed puberty; Depressed nasal bridge; Down-sloping shoulders; Downslanted palpebral fissures; Generalized hypotonia; High forehead; High palate; Hyperactivity; Hypogonadism; Hypoplasia of penis; Hypospadias; Inguinal hernia; Intellectual disability; Intellectual disability, moderate; Intellectual disability, severe; Joint laxity; Kyphosis; Macrocephaly; Macroglossia; Mandibular prognathia; Micropenis; Mood swings; Muscular hypotonia; Obesity; Open bite; Pes cavus; Prominent nose; Relative macrocephaly; Sandal gap; Scoliosis; Short foot; Short neck; Short palm; Short philtrum; Short stature; Small hand; Striae distensae; Synophrys; Thick lower lip vermilion; Tremor; Ventriculomegaly; Wide mouth; X-linked recessive inheritanceObesity
DAG13p21.31100%gene with protein product128239Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Absent speech; Agenesis of corpus callosum; Ankle contracture; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral calcification; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Elevated serum creatine phosphokinase; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Hydrocephalus; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hyporeflexia; Infantile onset; Intellectual disability; Leukodystrophy; Limb-girdle muscle weakness; Lissencephaly; Lumbar hyperlordosis; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopia; Optic atrophy; Pachygyria; Polymicrogyria; Poor head control; Respiratory failure; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Skeletal muscle atrophy; Specific learning disability; Variable expressivity; VentriculomegalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
DCXXq23100%gene with protein product300121Agenesis of corpus callosum; Ataxia; Death in infancy; Dysarthria; Feeding difficulties; Hypertonia; Incomplete penetrance; Infantile onset; Intellectual disability; Intellectual disability, severe; Lissencephaly; Micropenis; Motor delay; Muscular hypotonia; Muscular hypotonia of the trunk; Nystagmus; Pachygyria; Postnatal growth retardation; Seizures; X-linked inheritance
DDR21q23.3100%gene with protein product191311TYRO10, NTRKR3Abnormal calcification of the carpal bones; Abnormality of the neck; Anterior rib cupping; Atlantoaxial instability; Autosomal recessive inheritance; Bell-shaped thorax; Bowing of the legs; Broad metacarpals; Broad phalanx; C1-C2 subluxation; Calcification of falx cerebri; Depressed nasal bridge; Disproportionate short-limb short stature; Elbow flexion contracture; Epiphyseal stippling; Flared iliac wings; Flared metaphysis; Frontal bossing; Generalized hypotonia; Global developmental delay; High palate; Hip subluxation; Hypertelorism; Hypoplasia of the odontoid process; Knee flexion contracture; Long fibula; Malar flattening; Metatarsus adductus; Micrognathia; Micromelia; Midface retrusion; Muscular hypotonia; Pectus excavatum; Platyspondyly; Posterior rib cupping; Progressive calcification of costochondral cartilage; Proptosis; Recurrent pneumonia; Restrictive ventilatory defect; Scoliosis; Short long bone; Short metacarpal; Short nose; Short phalanx of finger; Short ribs; Spinal cord compression; Spondyloepimetaphyseal dysplasia; Syringomyelia; Thoracic hypoplasia; Tracheal calcification; Triangular shaped distal phalanges of the hand
DEAF111p15.5100%gene with protein product602635Abnormal form of the vertebral bodies; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Absent speech; Aggressive behavior; Agitation; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Brachydactyly; Broad forehead; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; Dyskinesia; EEG abnormality; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hoarse voice; Horizontal eyebrow; Hyperacusis; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Infantile onset; Intellectual disability; Involuntary movements; Large face; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Mood swings; Muscular hypotonia; Myopia; Neurological speech impairment; Obesity; Open mouth; Pes planus; Poor eye contact; Recurrent infections; Scoliosis; Self-injurious behavior; Short nose; Short philtrum; Short stature; Sleep disturbance; Status epilepticus; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Thick lower lip vermilion; Toe syndactyly; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge
DGCR222q11.21100%gene with protein product600594Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Aggressive behavior; Autosomal dominant inheritance; Blepharophimosis; Bulbous nose; Cleft palate; Hypocalcemia; Inguinal hernia; Intellectual disability; Microcephaly; Mood swings; Muscular hypotonia; Nasal speech; Open mouth; Paranoia; Pierre-Robin sequence; Posterior embryotoxon; Recurrent infections; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Short stature; Specific learning disability; Tetralogy of Fallot; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Velopharyngeal insufficiency; Ventricular septal defect
DGCR622q11.21100%gene with protein product601279Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Aggressive behavior; Autosomal dominant inheritance; Blepharophimosis; Bulbous nose; Cleft palate; Hypocalcemia; Inguinal hernia; Intellectual disability; Microcephaly; Mood swings; Muscular hypotonia; Nasal speech; Open mouth; Paranoia; Pierre-Robin sequence; Posterior embryotoxon; Recurrent infections; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Short stature; Specific learning disability; Tetralogy of Fallot; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Velopharyngeal insufficiency; Ventricular septal defect
DGCR822q11.21100%gene with protein product609030C22orf12Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Aggressive behavior; Autosomal dominant inheritance; Blepharophimosis; Bulbous nose; Cleft palate; Hypocalcemia; Inguinal hernia; Intellectual disability; Microcephaly; Mood swings; Muscular hypotonia; Nasal speech; Open mouth; Paranoia; Pierre-Robin sequence; Posterior embryotoxon; Recurrent infections; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Short stature; Specific learning disability; Tetralogy of Fallot; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Velopharyngeal insufficiency; Ventricular septal defect
DHCR711q13.4100%gene with protein product602858SLOS2-3 toe syndactyly; Abnormal dermatoglyphics; Abnormal lung lobation; Abnormality of dental morphology; Abnormality of the larynx; Abnormality of the metacarpal bones; Aganglionic megacolon; Aggressive behavior; Ambiguous genitalia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Atrial septal defect; Atrioventricular canal defect; Attention deficit hyperactivity disorder; Autism; Autosomal recessive inheritance; Bicornuate uterus; Bifid scrotum; Biparietal narrowing; Breech presentation; Broad alveolar ridges; Cataract; Cholestatic liver disease; Cleft palate; Clitoral hypertrophy; Coarctation of aorta; Constipation; Cryptorchidism; Cutaneous photosensitivity; Cutis marmorata; Dandy-Walker malformation; Decreased fetal movement; Dental crowding; Depressed nasal bridge; Eczema; Elevated 7-dehydrocholesterol; Epicanthus; Epiphyseal stippling; Excessive daytime somnolence; Facial capillary hemangioma; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Gastrointestinal dysmotility; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hammertoe; Hearing impairment; Hip dislocation; Hip subluxation; Holoprosencephaly; Hydrocephalus; Hydronephrosis; Hyperactivity; Hypertelorism; Hypertonia; Hypocholesterolemia; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal lobes; Hypospadias; Increased nuchal translucency; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Metatarsus adductus; Microcephaly; Microglossia; Micrognathia; Micromelia; Micropenis; Muscular hypotonia; Narrow forehead; Nystagmus; Overlapping toe; Patent ductus arteriosus; Periventricular gray matter heterotopia; Polyhydramnios; Poor suck; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Precocious puberty; Premature birth; Proximal placement of thumb; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Recurrent infections; Recurrent otitis media; Renal agenesis; Renal cyst; Renal hypoplasia; Scrotal hypoplasia; Seizures; Self-injurious behavior; Self-mutilation; Septate vagina; Severe photosensitivity; Short neck; Short stature; Short thumb; Short toe; Sleep-wake cycle disturbance; Strabismus; Talipes calcaneovalgus; Tracheal stenosis; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Vomiting; Wide intermamillary distance; Wide mouth; Wide nasal bridgeDisorders of Sex Development
DIS3L22q37.199.98%gene with protein product614184FAM6AAbdominal pain; Abnormal facial shape; Abnormality of pancreas morphology; Agenesis of corpus callosum; Anteverted nares; Ascites; Autosomal recessive inheritance; Broad alveolar ridges; Congenital diaphragmatic hernia; Cryptorchidism; Deeply set eye; Depressed nasal bridge; Distal ileal atresia; Edema; Epicanthus; Global developmental delay; Hepatomegaly; High forehead; High, narrow palate; Hyperinsulinemia; Hypoplasia of penis; Hypoplasia of the abdominal wall musculature; Intellectual disability; Interrupted aortic arch; Large for gestational age; Long upper lip; Low-set ears; Macrocephaly; Micrognathia; Muscular hypotonia; Nephroblastoma; Nephroblastomatosis; Nephrogenic rest; Open mouth; Pancreatic islet-cell hyperplasia; Polyhydramnios; Posteriorly rotated ears; Renal hamartoma; Retrognathia; Round face; Short nose; Smooth philtrum; Specific learning disability; Tall stature; Tented upper lip vermilion; Thickened helices; Visceromegaly; Volvulus; Wide nasal bridge
DMPK19q13.32100%gene with protein productXomeDxSlice is not appropriate.605377DM1, DMAbnormal hair quantity; Abnormality of cardiovascular system morphology; Abnormality of the endocrine system; Autosomal dominant inheritance; Cataract; Cerebral atrophy; Cholelithiasis; Decreased fetal movement; Dysphagia; EMG abnormality; Excessive daytime sleepiness; Facial diplegia; Facial palsy; Feeding difficulties in infancy; First degree atrioventricular block; Frontal balding; Generalized hypotonia; Hypertonia; Hypogonadism; Intellectual disability, progressive; Intellectual disability, severe; Mask-like facies; Muscle weakness; Muscular hypotonia; Myotonia; Obsessive-compulsive trait; Polyhydramnios; Respiratory distress; Skeletal muscle atrophy; Testicular atrophy
DPAGT111q23.3100%gene with protein product191350DPAGT2, DPAGTAutosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Clinodactyly of the 5th finger; Congenital onset; Exotropia; Generalized hypotonia; Global developmental delay; Hyperreflexia; Intellectual disability; Inverted nipples; Microcephaly; Micrognathia; Motor delay; Muscular hypotonia; Nystagmus; Proximal muscle weakness; Ptosis; Scoliosis; Seizures; Single transverse palmar crease; Skin dimples; Slow progression; Type I transferrin isoform profile; Variable expressivity
DPM120q13.1399.94%gene with protein product603503Abnormal macular morphology; Abnormality of vision; Ankle contracture; Ataxia; Autosomal recessive inheritance; Camptodactyly; Cortical visual impairment; Depressed nasal bridge; Downslanted palpebral fissures; EEG abnormality; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Failure to thrive; Flat occiput; Generalized hypotonia; Hemangioma; Hepatomegaly; High, narrow palate; Hypertelorism; Infantile onset; Knee flexion contracture; Lower limb hyperreflexia; Microcephaly; Micrognathia; Muscular dystrophy; Muscular hypotonia; Nail dysplasia; Nystagmus; Optic atrophy; Patent ductus arteriosus; Pontocerebellar atrophy; Postnatal microcephaly; Progressive; Prolonged partial thromboplastin time; Reduced antithrombin III activity; Reduced protein C activity; Reduced protein S activity; Respiratory distress; Retinopathy; Seizures; Severe global developmental delay; Short palm; Small hand; Smooth philtrum; Splenomegaly; Strabismus; Telangiectasia; Tremor; Type I transferrin isoform profile; Upper limb undergrowth; Variable expressivityRhabdomyolysis
DUOX215q21.199.74%gene with protein product606759Abdominal distention; Autosomal recessive inheritance; Coarse facial features; Congenital hypothyroidism; Constipation; Decreased T3/T4 ratio; Fatigue; Global developmental delay; Goiter; Hypersomnia; Hypothyroidism; Increased thyroid-stimulating hormone level; Intellectual disability; Jaundice; Large fontanelles; Macroglossia; Muscular hypotonia; Short stature; Umbilical herniaInflammatory Bowel Disease
DUOXA215q21.1100%gene with protein product612772Abdominal distention; Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Coarse facial features; Constipation; Fatigue; Global developmental delay; Goiter; Growth delay; Hypersomnia; Hypothyroidism; Intellectual disability; Jaundice; Large fontanelles; Macroglossia; Muscular hypotonia; Short stature; Umbilical hernia
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
EDNRB13q22.3100%gene with protein product131244HSCR2, HSCRAbdominal pain; Abnormal auditory evoked potentials; Abnormal macular morphology; Abnormality of vision; Aganglionic megacolon; Albinism; Ataxia; Autonomic dysregulation; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue irides; Constipation; Global developmental delay; Hearing impairment; Heterochromia iridis; Heterogeneous; Hypopigmentation of the fundus; Hypopigmented skin patches; Intestinal obstruction; Large for gestational age; Leukodystrophy; Muscular hypotonia; Nausea and vomiting; Nystagmus; Olfactory lobe agenesis; Polyneuropathy; Premature graying of hair; Prominent nasal bridge; Sensorineural hearing impairment; Spastic paraparesis; Synophrys; Underdeveloped nasal alae; Weight loss; White eyebrow; White eyelashes; White forelock; Wide nasal bridgeWaardenburg Syndrome
EEF1A220q13.33100%gene with protein product602959STNL, STNAggressive behavior; Autosomal dominant inheritance; Deeply set eye; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus; Epileptic encephalopathy; Everted lower lip vermilion; Global developmental delay; Hypsarrhythmia; Infantile onset; Intellectual disability; Intellectual disability, severe; Low-set ears; Microcephaly; Muscular hypotonia; Neonatal hypotonia; Postnatal microcephaly; Seizures; Tented upper lip vermilion; Unsteady gait
EEF1A220q13.33100%gene with protein product602959STNL, STNAggressive behavior; Autosomal dominant inheritance; Deeply set eye; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus; Epileptic encephalopathy; Everted lower lip vermilion; Global developmental delay; Hypsarrhythmia; Infantile onset; Intellectual disability; Intellectual disability, severe; Low-set ears; Microcephaly; Muscular hypotonia; Neonatal hypotonia; Postnatal microcephaly; Seizures; Tented upper lip vermilion; Unsteady gait
EFNB1Xq13.1100%gene with protein product300035EPLG2, CFNSAbnormality of the dentition; Abnormality of the rib cage; Axillary pterygia; Bifid nasal tip; Brachycephaly; Brachydactyly; Broad hallux; Broad hallux phalanx; Camptodactyly of finger; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Congenital diaphragmatic hernia; Congenital pseudoarthrosis of the clavicle; Coronal craniosynostosis; Craniosynostosis; Cryptorchidism; Depressed nasal ridge; Down-sloping shoulders; Downslanted palpebral fissures; Exotropia; Facial asymmetry; Finger syndactyly; Fragile nails; Frontal bossing; Generalized hypotonia; Global developmental delay; Hand polydactyly; Hemihypotrophy of lower limb; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplastic nasal tip; Hypospadias; Intellectual disability; Joint hyperflexibility; Joint laxity; Low posterior hairline; Microcephaly; Midline defect of the nose; Muscular hypotonia; Nystagmus; Oral cleft; Pectus excavatum; Plagiocephaly; Ridged fingernail; Ridged nail; Sandal gap; Scoliosis; Sensorineural hearing impairment; Shawl scrotum; Short neck; Short stature; Split nail; Sprengel anomaly; Telecanthus; Thickened nuchal skin fold; Toe syndactyly; Umbilical hernia; Unilateral breast hypoplasia; Wide nasal bridge; Woolly hair; X-linked dominant inheritance
EHMT19q34.399.84%gene with protein product607001EHMT1-IT1Abnormal cardiac septum morphology; Abnormality of the pinna; Absence seizures; Aggressive behavior; Anteverted nares; Aphasia; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Coarse facial features; Cryptorchidism; Delayed speech and language development; Downturned corners of mouth; Dysphasia; Echolalia; Epileptic spasms; Everted lower lip vermilion; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Highly arched eyebrow; Hypertelorism; Hypospadias; Intellectual disability; Intellectual disability, severe; Macroglossia; Malar flattening; Mandibular prognathia; Microcephaly; Micropenis; Midface retrusion; Muscular hypotonia; Mutism; Obesity; Obsessive-compulsive behavior; Protruding tongue; Recurrent respiratory infections; Short nose; Single transverse palmar crease; Sleep disturbance; Specific learning disability; Sporadic; Status epilepticus; Stereotypy; Synophrys; U-Shaped upper lip vermilion; Upslanted palpebral fissureObesity
EHMT19q34.399.84%gene with protein product607001EHMT1-IT1Abnormal cardiac septum morphology; Abnormality of the pinna; Absence seizures; Aggressive behavior; Anteverted nares; Aphasia; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Coarse facial features; Cryptorchidism; Delayed speech and language development; Downturned corners of mouth; Dysphasia; Echolalia; Epileptic spasms; Everted lower lip vermilion; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Highly arched eyebrow; Hypertelorism; Hypospadias; Intellectual disability; Intellectual disability, severe; Macroglossia; Malar flattening; Mandibular prognathia; Microcephaly; Micropenis; Midface retrusion; Muscular hypotonia; Mutism; Obesity; Obsessive-compulsive behavior; Protruding tongue; Recurrent respiratory infections; Short nose; Single transverse palmar crease; Sleep disturbance; Specific learning disability; Sporadic; Status epilepticus; Stereotypy; Synophrys; U-Shaped upper lip vermilion; Upslanted palpebral fissureObesity
EIF2AK32p11.299.85%gene with protein product604032Abnormal heart morphology; Abnormality of the metaphysis; Acute hepatic failure; Autosomal recessive inheritance; Barrel-shaped chest; Brachydactyly; Carpal bone hypoplasia; Chronic hepatic failure; Cone-shaped epiphyses of the phalanges of the hand; Coxa valga; Death in infancy; Dehydration; Delayed skeletal maturation; Depressed nasal bridge; Elevated hepatic transaminases; Enlarged thorax; Epicanthus; Epiphyseal dysplasia; Flattened epiphysis; Gait disturbance; Genu valgum; Global developmental delay; Glycosuria; Hepatomegaly; High forehead; High palate; Hip dislocation; Hip subluxation; Hyperglycemia; Hyperlordosis; Hypermetropia; Hypertelorism; Hypertonia; Hyperuricemia; Hypoplasia of the odontoid process; Infantile onset; Insulin-resistant diabetes mellitus; Intellectual disability; Intracerebral periventricular calcifications; Irregular carpal bones; Irregular tarsal ossification; Irregular vertebral endplates; Ivory epiphyses of the phalanges of the hand; Ivory epiphyses of the toes; Ketoacidosis; Microcephaly; Microdontia; Motor delay; Multiple epiphyseal dysplasia; Muscular hypotonia; Narrow iliac wings; Neutropenia; Osteopenia; Osteoporosis; Platyspondyly; Preauricular pit; Reduced pancreatic beta cells; Renal insufficiency; Renal tubular dysfunction; Short stature; Short thorax; Shortening of all middle phalanges of the fingers; Small epiphyses; Steatorrhea; Thin vermilion border; Transient neonatal diabetes mellitus; Triangular face; Type I diabetes mellitus; Upslanted palpebral fissure; Weight loss
EIF2S3Xp22.11100%gene with protein product300161EIF2GAggressive behavior; Agitation; Babinski sign; Broad nasal tip; Cleft lip; Cleft palate; Cryptorchidism; Delayed puberty; Delayed speech and language development; Depressed nasal tip; Difficulty walking; Downturned corners of mouth; Drooling; EEG abnormality; Full cheeks; Gait ataxia; Generalized hypotonia; Global developmental delay; Growth delay; Growth hormone deficiency; Hyperreflexia; Hypertonia; Hypoglycemia; Hypogonadism; Hypoplasia of the corpus callosum; Inability to walk; Intellectual disability; Intellectual disability, severe; Large earlobe; Long face; Long philtrum; Macrotia; Microcephaly; Micropenis; Muscular hypotonia; Myopia; Nystagmus; Obesity; Open mouth; Poor speech; Round face; Seizures; Severe global developmental delay; Short stature; Sloping forehead; Spastic tetraparesis; Strabismus; Talipes equinovarus; Tall chin; Tapered finger; Thick vermilion border; Variable expressivity; Ventriculomegaly; Widely spaced teeth; X-linked recessive inheritanceObesity
ELN7q11.2399.99%gene with protein product130160Abdominal pain; Abnormality iris morphology; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the face; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Aortic regurgitation; Arrhythmia; Arthralgia; Ascending aortic dissection; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bicuspid aortic valve; Bladder diverticulum; Blepharophimosis; Blue irides; Bowel diverticulosis; Broad forehead; Broad nasal tip; Cardiomegaly; Cerebral ischemia; Chest pain; Chronic constipation; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Coronary artery atherosclerosis; Coronary artery stenosis; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Dental malocclusion; Depressed nasal bridge; Depressivity; Descending aortic dissection; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Emphysema; Enuresis; Epicanthus; Everted lower lip vermilion; Exertional dyspnea; Failure to thrive in infancy; Feeding difficulties in infancy; Flexion contracture; Full cheeks; Gait imbalance; Gastroesophageal reflux; Generalized hypotonia; Genu valgum; Glucose intolerance; Hallux valgus; Heterogeneous; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Impaired visuospatial constructive cognition; Incoordination; Inguinal hernia; Insomnia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Left ventricular failure; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Medial flaring of the eyebrow; Microcephaly; Microdontia; Micrognathia; Midface retrusion; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Narrow forehead; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Obsessive-compulsive trait; Open bite; Open mouth; Osteopenia; Osteoporosis; Overfriendliness; Paroxysmal dyspnea; Pelvic kidney; Periorbital edema; Periorbital fullness; Peripheral arterial stenosis; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Poor coordination; Premature graying of hair; Premature skin wrinkling; Prematurely aged appearance; Proteinuria; Protruding ear; Pulmonary artery stenosis; Pulmonic stenosis; Rectal prolapse; Recurrent otitis media; Recurrent urinary tract infections; Redundant skin; Renal hypoplasia; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Small nail; Soft skin; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Urethral stenosis; Vesicoureteral reflux; Visual impairment; Wide mouth; Wide nasal bridge
ELN7q11.2399.99%gene with protein product130160Abdominal pain; Abnormality iris morphology; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the face; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Aortic regurgitation; Arrhythmia; Arthralgia; Ascending aortic dissection; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bicuspid aortic valve; Bladder diverticulum; Blepharophimosis; Blue irides; Bowel diverticulosis; Broad forehead; Broad nasal tip; Cardiomegaly; Cerebral ischemia; Chest pain; Chronic constipation; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Coronary artery atherosclerosis; Coronary artery stenosis; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Dental malocclusion; Depressed nasal bridge; Depressivity; Descending aortic dissection; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Emphysema; Enuresis; Epicanthus; Everted lower lip vermilion; Exertional dyspnea; Failure to thrive in infancy; Feeding difficulties in infancy; Flexion contracture; Full cheeks; Gait imbalance; Gastroesophageal reflux; Generalized hypotonia; Genu valgum; Glucose intolerance; Hallux valgus; Heterogeneous; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Impaired visuospatial constructive cognition; Incoordination; Inguinal hernia; Insomnia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Left ventricular failure; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Medial flaring of the eyebrow; Microcephaly; Microdontia; Micrognathia; Midface retrusion; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Narrow forehead; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Obsessive-compulsive trait; Open bite; Open mouth; Osteopenia; Osteoporosis; Overfriendliness; Paroxysmal dyspnea; Pelvic kidney; Periorbital edema; Periorbital fullness; Peripheral arterial stenosis; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Poor coordination; Premature graying of hair; Premature skin wrinkling; Prematurely aged appearance; Proteinuria; Protruding ear; Pulmonary artery stenosis; Pulmonic stenosis; Rectal prolapse; Recurrent otitis media; Recurrent urinary tract infections; Redundant skin; Renal hypoplasia; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Small nail; Soft skin; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Urethral stenosis; Vesicoureteral reflux; Visual impairment; Wide mouth; Wide nasal bridge
ELP19q31.399.97%gene with protein product603722DYS, IKBKAPAbnormal pupil morphology; Abnormal renal physiology; Acrocyanosis; Alacrima; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Congenital onset; Constipation; Corneal erosion; Corneal ulceration; Decreased corneal reflex; Decreased number of large peripheral myelinated nerve fibers; Decreased sensitivity to hypoxemia; Decreased taste sensation; Diarrhea; Elevated serum creatinine; EMG abnormality; Emotional lability; Episodic fever; Episodic hyperhidrosis; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Glomerulosclerosis; Growth delay; Hyperhidrosis; Hypertension; Hypohidrosis; Hyporeflexia; Impaired pain sensation; Incoordination; Increased blood urea nitrogen; Malignant hyperthermia; Muscular hypotonia; Neuropathic arthropathy; Orthostatic hypotension; Progressive; Recurrent corneal erosions; Recurrent infections due to aspiration; Recurrent respiratory infections; Scoliosis; Tachycardia; Vomiting
EP30022q13.2100%gene with protein product602700Abnormal cornea morphology; Abnormal number of teeth; Abnormality of refraction; Abnormality of the cervical spine; Abnormality of the kidney; Abnormality of the pinna; Aganglionic megacolon; Agenesis of corpus callosum; Agoraphobia; Arrhythmia; Atrial septal defect; Autism; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Bifid uterus; Bimanual synkinesia; Broad hallux; Broad thumb; Cafe-au-lait spot; Capillary hemangiomas; Carious teeth; Cataract; Chorioretinal dystrophy; Clinodactyly of the 5th finger; Coloboma; Congenital onset; Constipation; Convex nasal ridge; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Delayed gross motor development; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Dental malocclusion; Deviated nasal septum; Dislocated radial head; Downslanted palpebral fissures; Duane anomaly; Duplication of phalanx of hallux; EEG abnormality; Epicanthus; Facial grimacing; Failure to thrive; Feeding difficulties in infancy; Flared iliac wings; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Glaucoma; Global developmental delay; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; High axial triradius; High palate; Highly arched eyebrow; Hirsutism; Hyperactivity; Hyperreflexia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplastic iliac wing; Hypospadias; Impulsivity; Intellectual disability; Intellectual disability, mild; Joint hypermobility; Joint laxity; Keloids; Large foramen magnum; Laryngomalacia; Long eyelashes; Low anterior hairline; Low hanging columella; Low posterior hairline; Low-set ears; Microcephaly; Micrognathia; Muscular hypotonia; Narrow mouth; Narrow palate; Nasolacrimal duct obstruction; Neoplasm of the stomach; Obstructive sleep apnea; Overbite; Papillary cystadenoma of the epididymis; Parietal foramina; Patellar dislocation; Patent ductus arteriosus; Pectus excavatum; Pes planus; Phonophobia; Plantar crease between first and second toes; Polydactyly; Polyhydramnios; Poor coordination; Posterior helix pit; Postnatal growth retardation; Premature thelarche; Prominent fingertip pads; Prominent nose; Proptosis; Ptosis; Radial deviation of thumb terminal phalanx; Recurrent upper respiratory tract infections; Renal cell carcinoma; Respiratory distress; Retrognathia; Scoliosis; Seizures; Self-mutilation; Shawl scrotum; Short attention span; Short stature; Single transverse palmar crease; Spina bifida occulta; Sporadic; Stereotypy; Syndactyly; Talon cusp; Tethered cord; Thick eyebrow; Transitional cell carcinoma of the bladder; Truncal obesity; Unsteady gait; Uterine leiomyosarcoma; Variable expressivity; Vascular ring; Ventricular septal defect; Wide anterior fontanel; Wide nasal bridgeObesity
EPCAM2p2199.97%gene with protein product185535M4S1, MIC18, TACSTD1Abdominal pain; Anxiety; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Failure to thrive; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hereditary nonpolyposis colorectal carcinoma; Hypertonia; Increased intracranial pressure; Intractable diarrhea; Irritability; Malabsorption; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Seizures; Villous atrophy; Weight loss
EPG518q12.3-q21.100%gene with protein product615068KIAA1632Abnormal posturing; Abnormality of retinal pigmentation; Abnormality of the thymus; Acidosis; Agenesis of corpus callosum; Albinism; Autosomal recessive inheritance; Cardiomyopathy; Cataract; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Chronic mucocutaneous candidiasis; Cleft palate; Cleft upper lip; Congenital cataract; Congenital onset; Congestive heart failure; Cutaneous anergy; Death in infancy; Decreased proportion of CD4-positive T cells; Decreased T cell activation; Depressed nasal tip; Dilated cardiomyopathy; EEG abnormality; Failure to thrive; Generalized hypotonia; Global developmental delay; Growth delay; High palate; Hypertelorism; Hypopigmentation of the fundus; Hypopigmentation of the skin; Hypoplasia of the pons; IgG deficiency; Immunodeficiency; Immunoglobulin IgG2 deficiency; Intellectual disability; Left ventricular hypertrophy; Low-set ears; Microcephaly; Micrognathia; Motor delay; Muscular hypotonia; Myopathy; Nystagmus; Ocular albinism; Optic atrophy; Penile hypospadias; Recurrent bacterial infections; Recurrent fungal infections; Recurrent respiratory infections; Recurrent viral infections; Renal tubular acidosis; Schizencephaly; Seizures; Short stature; Ureteral atresia; White matter neuronal heterotopiaAlbinism
ERCC119q13.32100%gene with protein product126380Abnormal nasal morphology; Abnormality of immune system physiology; Adducted thumb; Aplasia/Hypoplasia of the cerebellum; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bilateral microphthalmos; Blepharophimosis; Camptodactyly of finger; Cataract; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Congenital onset; Cortical gyral simplification; Cutaneous photosensitivity; Death in infancy; Deeply set eye; Dislocated radial head; EEG abnormality; Everted lower lip vermilion; Failure to thrive in infancy; Feeding difficulties in infancy; Flared metaphysis; Flexion contracture of toe; Global developmental delay; Hip dislocation; Hyperreflexia; Hypertonia; Hypogonadism; Intrauterine growth retardation; Joint stiffness; Kyphoscoliosis; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Microphthalmia; Muscular hypotonia; Nystagmus; Polymicrogyria; Premature closure of fontanelles; Prominent metopic ridge; Prominent nasal bridge; Reduced tendon reflexes; Rocker bottom foot; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short philtrum; Short stature; Slender long bone; Variable expressivity; Visual impairment; Wide nasal bridge
ERCC219q13.32100%gene with protein product126340XPDAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Abnormality of the thorax; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Asthma; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Brittle hair; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Chronic diarrhea; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed speech and language development; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Ectropion; EEG abnormality; Entropion; Erythema; Erythroderma; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Fine hair; Flexion contracture; Fragile nails; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Hyporeflexia; IgG deficiency; Intellectual disability; Intellectual disability, progressive; Intestinal obstruction; Intrauterine growth retardation; Joint stiffness; Keratitis; Kyphoscoliosis; Lack of subcutaneous fatty tissue; Large beaked nose; Malabsorption; Melanoma; Mental deterioration; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Nail dystrophy; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Recurrent infections; Reduced tendon reflexes; Retinopathy; Retrognathia; Rocker bottom foot; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Small for gestational age; Small nail; Sparse hair; Spasticity; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin; Trichorrhexis nodosa; Urticaria; Visual impairment; Wide nasal bridgeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC513q33.1100%gene with protein product133530ERCM2, XPGCAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in infancy; Decreased fetal movement; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Edema; EEG abnormality; Erythema; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Intellectual disability; Intellectual disability, progressive; Intrauterine growth retardation; Joint stiffness; Keratitis; Low-set ears; Melanoma; Microcephaly; Micrognathia; Microphthalmia; Muscular hypotonia; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Reduced tendon reflexes; Retinopathy; Rocker bottom foot; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Talipes equinovarus; Telangiectasia of the skin; Thin skin; Urticaria; Variable expressivity; Visual impairment; Wide nasal bridge
ERCC610q11.23100%gene with protein product609413CKN2Abnormal auditory evoked potentials; Abnormal nasal morphology; Abnormal peripheral myelination; Abnormality of immune system physiology; Abnormality of skin pigmentation; Abnormality of the hair; Abnormality of the pinna; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anhidrosis; Aplasia/Hypoplasia of the cerebellum; Areflexia; Arrhythmia; Arthrogryposis multiplex congenita; Ataxia; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Camptodactyly; Camptodactyly of finger; Carious teeth; Cataract; Cerebellar atrophy; Cerebellar calcifications; Cerebellar hypoplasia; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Conjunctivitis; Coxa valga; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Decreased lacrimation; Decreased nerve conduction velocity; Deep longitudinal plantar crease; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed eruption of primary teeth; Delayed myelination; Dental malocclusion; Dermal atrophy; Dry hair; Dry skin; Ectropion; Elbow flexion contracture; Elevated circulating follicle stimulating hormone level; Entropion; Everted lower lip vermilion; Failure to thrive; Feeding difficulties in infancy; Freckling; Generalized hypotonia; Gliosis; Gonadal hypoplasia; Hepatomegaly; Heterogeneous; Hirsutism; Hypermetropia; Hypertension; Hypertonia; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the iris; Hypoplastic iliac wing; Hypoplastic pelvis; Hyporeflexia; Increased cellular sensitivity to UV light; Infantile onset; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Ivory epiphyses of the phalanges of the hand; Joint contracture of the hand; Joint stiffness; Keratitis; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long philtrum; Loss of facial adipose tissue; Mandibular prognathia; Mental deterioration; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscle weakness; Muscular hypotonia; Neoplasm; Normal pressure hydrocephalus; Nystagmus; Oligomenorrhea; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic atrophy; Osteoporosis; Patchy demyelination of subcortical white matter; Peripheral dysmyelination; Photophobia; Pigmentary retinopathy; Pigmentation anomalies of sun-exposed skin; Poikiloderma; Polyneuropathy; Postnatal growth retardation; Progeroid facial appearance; Prominent metopic ridge; Prominent nasal bridge; Proteinuria; Reduced subcutaneous adipose tissue; Reduced tendon reflexes; Renal insufficiency; Rocker bottom foot; Second metatarsal posteriorly placed; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Severe failure to thrive; Severe global developmental delay; Severe short stature; Short neck; Short stature; Slender nose; Sloping forehead; Small for gestational age; Sparse hair; Spasticity; Splenomegaly; Square pelvis bone; Strabismus; Subcortical white matter calcifications; Telangiectasia; Thickened calvaria; Thin vermilion border; Tremor; Visual impairment; Wide intermamillary distance; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes
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
ESS222q11.21100%gene with protein product601755DGCR13, DGCR14Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Aggressive behavior; Autosomal dominant inheritance; Blepharophimosis; Bulbous nose; Cleft palate; Hypocalcemia; Inguinal hernia; Intellectual disability; Microcephaly; Mood swings; Muscular hypotonia; Nasal speech; Open mouth; Paranoia; Pierre-Robin sequence; Posterior embryotoxon; Recurrent infections; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Short stature; Specific learning disability; Tetralogy of Fallot; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Velopharyngeal insufficiency; Ventricular septal defect
ETFA15q24.2-q24.99.95%gene with protein product608053Abnormal facial shape; Abnormality of the genital system; Abnormality of the pinna; Autosomal recessive inheritance; Congenital cataract; Defective dehydrogenation of isovaleryl CoA and butyryl CoA; Depressed nasal bridge; Electron transfer flavoprotein-ubiquinone oxidoreductase defect; Ethylmalonic aciduria; Generalized aminoaciduria; Gliosis; Glutaric acidemia; Glutaric aciduria; Glycosuria; Hepatic periportal necrosis; Hepatic steatosis; Hepatomegaly; High forehead; Hypoglycemia; Hypoglycemic coma; Jaundice; Macrocephaly; Muscle weakness; Muscular hypotonia; Nausea; Neonatal death; Pachygyria; Polycystic kidney dysplasia; Proximal tubulopathy; Pulmonary hypoplasia; Renal cortical cysts; Respiratory distress; Telecanthus; Vomiting; Wide anterior fontanelRhabdomyolysis
ETFB19q13.41100%gene with protein product130410Abnormal facial shape; Abnormality of the genital system; Abnormality of the pinna; Autosomal recessive inheritance; Congenital cataract; Defective dehydrogenation of isovaleryl CoA and butyryl CoA; Depressed nasal bridge; Electron transfer flavoprotein-ubiquinone oxidoreductase defect; Ethylmalonic aciduria; Generalized aminoaciduria; Gliosis; Glutaric acidemia; Glutaric aciduria; Glycosuria; Hepatic periportal necrosis; Hepatic steatosis; Hepatomegaly; High forehead; Hypoglycemia; Hypoglycemic coma; Jaundice; Macrocephaly; Muscle weakness; Muscular hypotonia; Nausea; Neonatal death; Pachygyria; Polycystic kidney dysplasia; Proximal tubulopathy; Pulmonary hypoplasia; Renal cortical cysts; Respiratory distress; Telecanthus; Vomiting; Wide anterior fontanelRhabdomyolysis
ETFDH4q32.199.97%gene with protein product231675Abnormal facial shape; Abnormality of the genital system; Abnormality of the pinna; Autosomal recessive inheritance; Congenital cataract; Defective dehydrogenation of isovaleryl CoA and butyryl CoA; Depressed nasal bridge; Electron transfer flavoprotein-ubiquinone oxidoreductase defect; Ethylmalonic aciduria; Generalized aminoaciduria; Gliosis; Glutaric acidemia; Glutaric aciduria; Glycosuria; Hepatic periportal necrosis; Hepatic steatosis; Hepatomegaly; High forehead; Hypoglycemia; Hypoglycemic coma; Jaundice; Macrocephaly; Muscle weakness; Muscular hypotonia; Nausea; Neonatal death; Pachygyria; Polycystic kidney dysplasia; Proximal tubulopathy; Pulmonary hypoplasia; Renal cortical cysts; Respiratory distress; Telecanthus; Vomiting; Wide anterior fontanelRhabdomyolysis
FAN115q13.3100%gene with protein product613534KIAA1018, MTMR15Abdominal pain; Anxiety; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Elevated serum creatinine; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Glycosuria; Hypertonia; Increased blood urea nitrogen; Increased intracranial pressure; Irritability; Malabsorption; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Nephronophthisis; Progressive; Proteinuria; Seizures; Stage 5 chronic kidney disease; Tubulointerstitial nephritis; Weight lossHeterotaxy
FBN115q21.1100%gene with protein product134797FBN, MFS1, WMSAbnormal aortic valve morphology; Abnormal cardiac ventricle morphology; Abnormal echocardiogram; Abnormal eyebrow morphology; Abnormality iris morphology; Abnormality of dental morphology; Abnormality of the sternum; Adducted thumb; Anteverted nares; Aortic aneurysm; Aortic dissection; Aortic regurgitation; Aortic root aneurysm; Aortic valve stenosis; Arachnodactyly; Ascending aortic dissection; Ascending tubular aorta aneurysm; Autosomal dominant inheritance; Blindness; Blue sclerae; Brachycephaly; Brachydactyly; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanges of the hand; Broad ribs; Broad skull; Bruising susceptibility; Bulbous nose; Camptodactyly of finger; Cardiomegaly; Cataract; Chest pain; Cognitive impairment; Communicating hydrocephalus; Cone-shaped epiphysis; Congestive heart failure; Coronary artery atherosclerosis; Craniosynostosis; Crumpled ear; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Decreased muscle mass; Decreased nerve conduction velocity; Decreased testicular size; Deep philtrum; Deeply set eye; Delayed skeletal maturation; Dental crowding; Depressed nasal bridge; Descending aortic dissection; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dural ectasia; Ectopia lentis; Emphysema; Enlarged thorax; Exertional dyspnea; Feeding difficulties; Fifth metacarpal with ulnar notch; Flexion contracture; Frontal bossing; Full cheeks; Genu recurvatum; Glaucoma; Hammertoe; Heart murmur; Hepatomegaly; High forehead; High myopia; High palate; High, narrow palate; Hoarse voice; Hyperextensibility of the finger joints; Hypertelorism; Hypertension; Hypoplasia of the iris; Hypoplasia of the maxilla; Hyporeflexia; Hypoxemia; Incisional hernia; Increased arm span; Increased axial length of the globe; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Iridodonesis; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Kyphoscoliosis; Lack of skin elasticity; Left ventricular failure; Limitation of joint mobility; Lipoatrophy; Long eyelashes; Long face; Long philtrum; Long toe; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Mandibular prognathia; Medial rotation of the medial malleolus; Megalocornea; Micrognathia; Microspherophakia; Misalignment of teeth; Mitral annular calcification; Mitral regurgitation; Mitral stenosis; Mitral valve prolapse; Motor delay; Muscular hypotonia; Myopia; Narrow face; Narrow mouth; Narrow nose; Narrow palate; Neonatal respiratory distress; Oligohydramnios; Ovoid vertebral bodies; Paroxysmal dyspnea; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pes cavus; Pes planus; Pes valgus; Pneumothorax; Posteriorly rotated ears; Premature birth; Premature osteoarthritis; Prominent forehead; Prominent nasal bridge; Proportionate short stature; Proptosis; Protrusio acetabuli; Ptosis; Pulmonary arterial hypertension; Pulmonary artery dilatation; Pulmonic stenosis; Reduced subcutaneous adipose tissue; Respiratory insufficiency; Retinal detachment; Retrognathia; Round face; Scaphocephaly; Scoliosis; Severe short stature; Shallow anterior chamber; Shallow orbits; Short foot; Short long bone; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short stature; Short thumb; Small for gestational age; Small hand; Smooth philtrum; Spinal canal stenosis; Spondylolisthesis; Stiff skin; Strabismus; Striae distensae; Talipes calcaneovarus; Tall stature; Telecanthus; Thick lower lip vermilion; Thickened skin; Thin bony cortex; Thin upper lip vermilion; Toe walking; Tricuspid regurgitation; Tricuspid valve prolapse; Umbilical hernia; Ventricular septal defect; Wide nasal bridge
FBN115q21.1100%gene with protein product134797FBN, MFS1, WMSAbnormal aortic valve morphology; Abnormal cardiac ventricle morphology; Abnormal echocardiogram; Abnormal eyebrow morphology; Abnormality iris morphology; Abnormality of dental morphology; Abnormality of the sternum; Adducted thumb; Anteverted nares; Aortic aneurysm; Aortic dissection; Aortic regurgitation; Aortic root aneurysm; Aortic valve stenosis; Arachnodactyly; Ascending aortic dissection; Ascending tubular aorta aneurysm; Autosomal dominant inheritance; Blindness; Blue sclerae; Brachycephaly; Brachydactyly; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanges of the hand; Broad ribs; Broad skull; Bruising susceptibility; Bulbous nose; Camptodactyly of finger; Cardiomegaly; Cataract; Chest pain; Cognitive impairment; Communicating hydrocephalus; Cone-shaped epiphysis; Congestive heart failure; Coronary artery atherosclerosis; Craniosynostosis; Crumpled ear; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Decreased muscle mass; Decreased nerve conduction velocity; Decreased testicular size; Deep philtrum; Deeply set eye; Delayed skeletal maturation; Dental crowding; Depressed nasal bridge; Descending aortic dissection; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dural ectasia; Ectopia lentis; Emphysema; Enlarged thorax; Exertional dyspnea; Feeding difficulties; Fifth metacarpal with ulnar notch; Flexion contracture; Frontal bossing; Full cheeks; Genu recurvatum; Glaucoma; Hammertoe; Heart murmur; Hepatomegaly; High forehead; High myopia; High palate; High, narrow palate; Hoarse voice; Hyperextensibility of the finger joints; Hypertelorism; Hypertension; Hypoplasia of the iris; Hypoplasia of the maxilla; Hyporeflexia; Hypoxemia; Incisional hernia; Increased arm span; Increased axial length of the globe; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Iridodonesis; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Kyphoscoliosis; Lack of skin elasticity; Left ventricular failure; Limitation of joint mobility; Lipoatrophy; Long eyelashes; Long face; Long philtrum; Long toe; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Mandibular prognathia; Medial rotation of the medial malleolus; Megalocornea; Micrognathia; Microspherophakia; Misalignment of teeth; Mitral annular calcification; Mitral regurgitation; Mitral stenosis; Mitral valve prolapse; Motor delay; Muscular hypotonia; Myopia; Narrow face; Narrow mouth; Narrow nose; Narrow palate; Neonatal respiratory distress; Oligohydramnios; Ovoid vertebral bodies; Paroxysmal dyspnea; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pes cavus; Pes planus; Pes valgus; Pneumothorax; Posteriorly rotated ears; Premature birth; Premature osteoarthritis; Prominent forehead; Prominent nasal bridge; Proportionate short stature; Proptosis; Protrusio acetabuli; Ptosis; Pulmonary arterial hypertension; Pulmonary artery dilatation; Pulmonic stenosis; Reduced subcutaneous adipose tissue; Respiratory insufficiency; Retinal detachment; Retrognathia; Round face; Scaphocephaly; Scoliosis; Severe short stature; Shallow anterior chamber; Shallow orbits; Short foot; Short long bone; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short stature; Short thumb; Small for gestational age; Small hand; Smooth philtrum; Spinal canal stenosis; Spondylolisthesis; Stiff skin; Strabismus; Striae distensae; Talipes calcaneovarus; Tall stature; Telecanthus; Thick lower lip vermilion; Thickened skin; Thin bony cortex; Thin upper lip vermilion; Toe walking; Tricuspid regurgitation; Tricuspid valve prolapse; Umbilical hernia; Ventricular septal defect; Wide nasal bridge
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
FKBP147p14.3100%gene with protein product614505Atrophic scars; Autosomal recessive inheritance; Bruising susceptibility; Easy fatigability; Elevated serum creatine phosphokinase; Follicular hyperkeratosis; Hernia; High-frequency sensorineural hearing impairment; Hyperextensible skin; Joint hypermobility; Kyphoscoliosis; Motor delay; Muscular hypotonia; Myopathy; Myopia; Osteopenia; Pes planus; Phenotypic variability; Poor head control; Sensorineural hearing impairment; Severe muscular hypotonia; Skeletal muscle atrophy; Soft skin
FKRP19q13.32100%gene with protein product606596Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the cerebral white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Calf muscle hypertrophy; Cataract; Cerebellar atrophy; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Death in childhood; Delayed gross motor development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Feeding difficulties in infancy; Frequent falls; Gait disturbance; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Kyphosis; Left ventricular failure; Left ventricular hypertrophy; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myalgia; Myopathy; Myopia; Neonatal hypotonia; Neurological speech impairment; Nocturnal hypoventilation; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pelvic girdle muscle weakness; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal amyotrophy; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Restrictive deficit on pulmonary function testing; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Thigh hypertrophy; Toe walking; Type II lissencephaly; Variable expressivity; Vertebral fusion; Visual impairment; Waddling gaitMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
FKRP19q13.32100%gene with protein product606596Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the cerebral white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Calf muscle hypertrophy; Cataract; Cerebellar atrophy; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Death in childhood; Delayed gross motor development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Feeding difficulties in infancy; Frequent falls; Gait disturbance; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Kyphosis; Left ventricular failure; Left ventricular hypertrophy; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myalgia; Myopathy; Myopia; Neonatal hypotonia; Neurological speech impairment; Nocturnal hypoventilation; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pelvic girdle muscle weakness; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal amyotrophy; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Restrictive deficit on pulmonary function testing; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Thigh hypertrophy; Toe walking; Type II lissencephaly; Variable expressivity; Vertebral fusion; Visual impairment; Waddling gaitMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
FKTN9q31.299.98%gene with protein productJapanese founder variant in the 3' UTR of FKTN would not be detected by this test607440FCMDAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Blindness; Brachycephaly; Buphthalmos; Calf muscle hypertrophy; Camptodactyly of finger; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Encephalocele; Excessive daytime sleepiness; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pyramidal tract; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macrogyria; Mask-like facies; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myocardial fibrosis; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pectus excavatum; Peters anomaly; Phenotypic variability; Plagiocephaly; Polymicrogyria; Posterior fossa cyst; Progressive; Proximal muscle weakness; Pulmonic stenosis; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Transposition of the great arteries; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairment; Weak cryMuscular dystropy-dystroglycanopathy (Walker-Warburg)
FKTN9q31.299.98%gene with protein productJapanese founder variant in the 3' UTR of FKTN would not be detected by this test607440FCMDAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Blindness; Brachycephaly; Buphthalmos; Calf muscle hypertrophy; Camptodactyly of finger; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Encephalocele; Excessive daytime sleepiness; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pyramidal tract; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macrogyria; Mask-like facies; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myocardial fibrosis; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pectus excavatum; Peters anomaly; Phenotypic variability; Plagiocephaly; Polymicrogyria; Posterior fossa cyst; Progressive; Proximal muscle weakness; Pulmonic stenosis; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Transposition of the great arteries; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairment; Weak cryMuscular dystropy-dystroglycanopathy (Walker-Warburg)
FKTN9q31.299.98%gene with protein productJapanese founder variant in the 3' UTR of FKTN would not be detected by this test607440FCMDAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Blindness; Brachycephaly; Buphthalmos; Calf muscle hypertrophy; Camptodactyly of finger; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Encephalocele; Excessive daytime sleepiness; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pyramidal tract; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macrogyria; Mask-like facies; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myocardial fibrosis; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pectus excavatum; Peters anomaly; Phenotypic variability; Plagiocephaly; Polymicrogyria; Posterior fossa cyst; Progressive; Proximal muscle weakness; Pulmonic stenosis; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Transposition of the great arteries; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairment; Weak cryMuscular dystropy-dystroglycanopathy (Walker-Warburg)
FLII17p11.299.92%gene with protein product600362Abnormal form of the vertebral bodies; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Attention deficit hyperactivity disorder; Brachycephaly; Brachydactyly; Broad forehead; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; EEG abnormality; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hoarse voice; Hyperacusis; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Intellectual disability; Large face; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Muscular hypotonia; Myopia; Neurological speech impairment; Obesity; Open mouth; Pes planus; Scoliosis; Self-injurious behavior; Short nose; Short philtrum; Short stature; Sleep disturbance; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Toe syndactyly; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge
FMR1Xq27.399.84%gene with protein productXomeDxSlice is not appropriate.309550POF1, POFAbnormal head movements; Abnormality of metabolism/homeostasis; Adult onset; Anxiety; Attention deficit hyperactivity disorder; Autism; Bowel incontinence; Bradykinesia; Bulbous nose; Cerebellar atrophy; Cerebral cortical atrophy; Chronic otitis media; Coarse facial features; Congenital macroorchidism; Cryptorchidism; Decreased testicular size; Deeply set eye; Delayed skeletal maturation; Dementia; Depressivity; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Disinhibition; Dysarthria; Dysautonomia; Dysdiadochokinesis; Dysesthesia; Dysmetria; Failure to thrive; Folate-dependent fragile site at Xq28; Frontal bossing; Gait ataxia; Gastroesophageal reflux; Global developmental delay; Gynecomastia; Hearing impairment; High pitched voice; Hyperactivity; Hypogonadism; Hyporeflexia; Hypothyroidism; Impaired distal vibration sensation; Impotence; Incomplete penetrance; Increased circulating gonadotropin level; Inertia; Intellectual disability, mild; Intellectual disability, moderate; Intention tremor; Intrauterine growth retardation; Joint laxity; Large forehead; Long face; Macrocephaly; Macroorchidism; Macroorchidism, postpubertal; Macrotia; Mandibular prognathia; Mask-like facies; Memory impairment; Menstrual irregularities; Mitral valve prolapse; Muscle weakness; Muscular hypotonia; Myalgia; Narrow face; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Obsessive-compulsive trait; Parkinsonism; Pectus excavatum; Periventricular gray matter heterotopia; Pes planus; Pollakisuria; Poor eye contact; Poor fine motor coordination; Postural tremor; Premature ovarian insufficiency; Protruding ear; Resting tremor; Rigidity; Saccadic smooth pursuit; Scoliosis; Seizures; Short foot; Short stature; Sinusitis; Small hand; Sparse body hair; Thin vermilion border; Truncal obesity; Urinary bladder sphincter dysfunction; Urinary incontinence; X-linked dominant inheritance; X-linked inheritance
FMR1Xq27.399.84%gene with protein productXomeDxSlice is not appropriate.309550POF1, POFAbnormal head movements; Abnormality of metabolism/homeostasis; Adult onset; Anxiety; Attention deficit hyperactivity disorder; Autism; Bowel incontinence; Bradykinesia; Bulbous nose; Cerebellar atrophy; Cerebral cortical atrophy; Chronic otitis media; Coarse facial features; Congenital macroorchidism; Cryptorchidism; Decreased testicular size; Deeply set eye; Delayed skeletal maturation; Dementia; Depressivity; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Disinhibition; Dysarthria; Dysautonomia; Dysdiadochokinesis; Dysesthesia; Dysmetria; Failure to thrive; Folate-dependent fragile site at Xq28; Frontal bossing; Gait ataxia; Gastroesophageal reflux; Global developmental delay; Gynecomastia; Hearing impairment; High pitched voice; Hyperactivity; Hypogonadism; Hyporeflexia; Hypothyroidism; Impaired distal vibration sensation; Impotence; Incomplete penetrance; Increased circulating gonadotropin level; Inertia; Intellectual disability, mild; Intellectual disability, moderate; Intention tremor; Intrauterine growth retardation; Joint laxity; Large forehead; Long face; Macrocephaly; Macroorchidism; Macroorchidism, postpubertal; Macrotia; Mandibular prognathia; Mask-like facies; Memory impairment; Menstrual irregularities;