XomeDxSlice Tool

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

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Phenotypic variability

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
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
ABHD1220p11.2199.99%gene with protein product613599C20orf22Achilles tendon contracture; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Decreased nerve conduction velocity; Distal amyotrophy; Distal sensory impairment; Dysarthria; Dysmetria; Hyperreflexia; Hyporeflexia; Intention tremor; Nystagmus; Onset; Optic atrophy; Pes cavus; Phenotypic variability; Polyneuropathy; Rod-cone dystrophy; Sensorimotor neuropathy; Sensorineural hearing impairment; Slow progression; Spasticity; Subcapsular cataract
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
ACTN21q43100%gene with protein product102573Autosomal dominant inheritance; Dilated cardiomyopathy; Endocardial fibroelastosis; Endocardial fibrosis; Phenotypic variability
ACY13p21.2100%gene with protein product104620Acute encephalopathy; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Delayed CNS myelination; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypertelorism; Muscle weakness; Phenotypic variability; Seizures; Sensorineural hearing impairment; Wide nasal bridge
ADGRG66q24.299.96%gene with protein product612243GPR126Adducted thumb; Anteverted nares; Autosomal recessive inheritance; Congenital contracture; Decreased fetal movement; Depressed nasal bridge; Hypertelorism; Intrauterine growth retardation; Low-set ears; Micrognathia; Phenotypic variability; Polyhydramnios; Pulmonary hypoplasia; Talipes equinovarus; Thin upper lip vermilion; Triangular face; Ulnar deviation of the hand
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
AMACR5p13.2100%gene with protein product604489Abnormality of the coagulation cascade; Autosomal recessive inheritance; Biliary tract abnormality; Cholestasis; Depressivity; Elevated hepatic transaminases; Failure to thrive; Fat malabsorption; Giant cell hepatitis; Hepatic failure; Hepatomegaly; Hyperbilirubinemia; Hypergonadotropic hypogonadism; Intrahepatic cholestasis; Migraine; Neonatal onset; Peripheral neuropathy; Phenotypic variability; Pigmentary retinopathy; Prolonged neonatal jaundice; Sensorimotor neuropathy; Spasticity; Status epilepticus; Type II diabetes mellitus; Visual impairment
AMELXXp22.2100%gene with protein product300391AMG, AIH1Abnormality of metabolism/homeostasis; Amelogenesis imperfecta; Anterior open bite; Hypoplasia of dental enamel; Microdontia; Phenotypic variability; X-linked dominant inheritance
AMPD11p13.2100%gene with protein product102770Autosomal recessive inheritance; Exercise-induced muscle fatigue; Exercise-induced myalgia; Increased muscle fatiguability; Limb muscle weakness; Muscle cramps; Muscle weakness; Phenotypic variability
ARHGAP313q13.32-q13.100%gene with protein product610911Abnormal pulmonary valve morphology; Abnormality of the metacarpal bones; Absent hand; Absent toe; Alopecia; Aortic valve stenosis; Aplasia cutis congenita; Aplasia cutis congenita on trunk or limbs; Aplasia cutis congenita over posterior parietal area; Atrial septal defect; Autosomal dominant inheritance; Bicuspid aortic valve; Brachydactyly; Calvarial skull defect; Cataract; Cleft palate; Cleft upper lip; Cortical dysplasia; Cutis marmorata; Encephalocele; Esotropia; Failure to thrive; Finger syndactyly; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypoplasia of the corpus callosum; Hypoplastic left heart; Imperforate hymen; Intellectual disability; Microcephaly; Microphthalmia; Pachygyria; Periventricular leukomalacia; Phenotypic variability; Polymicrogyria; Pulmonary arterial hypertension; Pulmonary artery atresia; Pulmonary artery stenosis; Pulmonic stenosis; Seizures; Short distal phalanx of finger; Small nail; Sparse hair; Split hand; Strabismus; Supernumerary nipple; Talipes; Talipes equinovarus; Tetralogy of Fallot; Toe syndactyly; Ventricular septal defect; Ventriculomegaly
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
ASS19q34.11100%gene with protein product603470ASSAtaxia; Autosomal recessive inheritance; Cerebral edema; Cirrhosis; Coma; Episodic ammonia intoxication; Failure to thrive; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglutaminemia; Hypoargininemia; Intellectual disability; Irritability; Lethargy; Neonatal onset; Oroticaciduria; Phenotypic variability; Protein avoidance; Respiratory alkalosis; Seizures; Vomiting
ASXL22p23.399.89%gene with protein product612991Atrial septal defect; Autosomal dominant inheritance; Broad nasal tip; Deep palmar crease; Delayed speech and language development; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Highly arched eyebrow; Hypertelorism; Infantile onset; Intellectual disability; Kyphosis; Long face; Low-set ears; Macrocephaly; Phenotypic variability; Posteriorly rotated ears; Proptosis; Ptosis; Retrognathia; Scoliosis; Ventriculomegaly
ATP6V1B28p21.3100%gene with protein product606939VPP3, ATP6B2Anonychia; Autosomal dominant inheritance; Bifid nasal tip; Brachydactyly; Congenital onset; Deep philtrum; Gingival overgrowth; Hidrotic ectodermal dysplasia; Macroglossia; Nail dystrophy; Phenotypic variability; Prominent nasal septum; Sensorineural hearing impairment; Short neck; Short stature; Small nail; Synophrys; Thick eyebrow; Thick vermilion border; Toe syndactyly; Underdeveloped nasal alae; Wide nasal bridgeEctodermal Dysplasia
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
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
AUH9q22.31100%gene with protein product6005293-Methylglutaconic aciduria; Ataxia; Athetosis; Autosomal recessive inheritance; Cerebral atrophy; Cognitive impairment; Delayed speech and language development; Dysarthria; Dystonia; Failure to thrive; Febrile seizures; Global developmental delay; Hyperreflexia; Infantile onset; Leukoencephalopathy; Metabolic acidosis; Motor delay; Optic atrophy; Phenotypic variability; Short attention span; Spastic tetraplegia; Urinary incontinence
BCS1L2q35100%gene with protein product603647Abnormal pattern of respiration; Abnormality of the abdominal wall; Abnormality of the coagulation cascade; Alopecia; Aminoaciduria; Anhidrosis; Ataxia; Autosomal recessive inheritance; Brittle hair; Cataract; Cerebellar atrophy; Cerebral atrophy; Cholangitis; Cholestasis; Chronic lactic acidosis; Cirrhosis; CNS demyelination; Coarse hair; Death in early adulthood; Decreased liver function; Decreased mitochondrial complex III activity in liver tissue; Decreased transferrin saturation; Depressivity; Dry hair; Dysarthria; Dystonia; EEG abnormality; Elevated hepatic iron concentration; Elevated hepatic transaminases; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes; Hallucinations; Hearing impairment; Hepatic steatosis; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hypogonadism; Increased CSF lactate; Increased serum ferritin; Increased serum iron; Increased serum lactate; Increased serum pyruvate; Infantile onset; Intellectual disability; Intrauterine growth retardation; Lactic acidosis; Metabolic acidosis; Microvesicular hepatic steatosis; Mitochondrial encephalopathy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Pili torti; Progressive; Ptosis; Ragged-red muscle fibers; Renal Fanconi syndrome; Respiratory failure; Rhabdomyolysis; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus; Tubulointerstitial nephritis; Variable expressivity
BUB1B15q15.1100%gene with protein product602860Abnormality of vision; Agenesis of corpus callosum; Ambiguous genitalia; Anteverted nares; Ascites; Autosomal recessive inheritance; Bifid scrotum; Brachycephaly; Cataract; Cerebellar hypoplasia; Cerebral hypoplasia; Cleft palate; Combined immunodeficiency; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Depressed nasal bridge; Epicanthus; Feeding difficulties in infancy; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Glaucoma; Global developmental delay; Hereditary nonpolyposis colorectal carcinoma; High forehead; Hydrocephalus; Hypertelorism; Hypodysplasia of the corpus callosum; Hypospadias; Increased nuchal translucency; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Leukemia; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Muscular dystrophy; Neoplasm of the stomach; Nephroblastoma; Nystagmus; Oligohydramnios; Phenotypic variability; Polyhydramnios; Posteriorly rotated ears; Postnatal growth retardation; Premature chromatid separation; Renal cell carcinoma; Renal cyst; Rhabdomyosarcoma; Severe global developmental delay; Short neck; Short nose; Short stature; Short sternum; Small for gestational age; Transitional cell carcinoma of the bladder; Triangular face; Triangular mouth; Upslanted palpebral fissure; Uterine leiomyosarcoma; Ventriculomegaly; Wide nose
C19ORF1219q1294.81%gene with protein product614297SPG43Abnormal lower motor neuron morphology; Ankle contracture; Ataxia; Autosomal recessive inheritance; Babinski sign; Delayed speech and language development; Dementia; Depressivity; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Elevated serum creatine phosphokinase; Emotional lability; Gait disturbance; Hyperreflexia; Hyporeflexia; Impulsivity; Knee flexion contracture; Lewy bodies; Neurodegeneration; Optic atrophy; Oromandibular dystonia; Parkinsonism; Pes cavus; Phenotypic variability; Progressive; Progressive visual loss; Scapular winging; Slow progression; Spastic paraplegia; Spasticity; Tremor; Variable expressivity
CBL11q23.3100%gene with protein product165360CBL2Aortic valve stenosis; Autosomal dominant inheritance; Bicuspid aortic valve; Cafe-au-lait spot; Cryptorchidism; Cubitus valgus; Deep philtrum; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Epicanthus; Fine hair; Frontal bossing; Generalized hypotonia; Global developmental delay; Hypertelorism; Joint hypermobility; Joint laxity; Juvenile myelomonocytic leukemia; Long philtrum; Low-set ears; Macrotia; Mitral regurgitation; Pectus excavatum; Phenotypic variability; Posteriorly rotated ears; Ptosis; Short neck; Somatic mutation; Sparse hair; Thick vermilion border; Triangular face; Webbed neck; Wide intermamillary distanceAplastic Anemia ; Bone Marrow Failure Syndromes
CEP16411q23.3100%gene with protein product614848Abnormality of retinal pigmentation; Autosomal recessive inheritance; Global developmental delay; Hypertension; Nephronophthisis; Phenotypic variability; Premature ovarian insufficiency; Progressive visual loss; Retinal degeneration; Retinal dystrophy; Short stature; Stage 5 chronic kidney disease; Visual impairmentHeterotaxy
CEP5711q21100%gene with protein product607951Abnormality of vision; Aortic regurgitation; Ascites; Atrial septal defect; Autosomal recessive inheritance; Cataract; Clinodactyly; Coarctation of aorta; Corneal opacity; Dandy-Walker malformation; Epicanthus; Generalized hypotonia; Glaucoma; Global developmental delay; Increased nuchal translucency; Intellectual disability; Intrauterine growth retardation; Microcephaly; Micrognathia; Microphthalmia; Muscular dystrophy; Phenotypic variability; Polyhydramnios; Short stature; Small for gestational age; Subvalvular aortic stenosis; Triangular face; Ventricular septal defect
CFH1q31.399.83%gene with protein product134370HF, HF1, HF2Autosomal dominant inheritance; Autosomal recessive inheritance; Chronic kidney disease; Decreased serum complement factor H; Depletion of components of the alternative complement pathway; Glomerular subendothelial electron-dense deposits; Hematuria; Juvenile onset; Phenotypic variability; Progressive visual loss; Recurrent bacterial infections; Thickening of the glomerular basement membraneNephrotic Syndrome
CHD412p13.31100%gene with protein product603277Abnormal cardiac septum morphology; Abnormality of the clavicle; Ambiguous genitalia; Anteriorly placed anus; Arnold-Chiari malformation; Astigmatism; Autosomal dominant inheritance; Coarctation of aorta; Coarse facial features; Cryptorchidism; Cupped ear; Epicanthus; Flat acetabular roof; Gait imbalance; Generalized hypotonia; Hearing impairment; Hypertelorism; Intellectual disability; Low-set ears; Macrocephaly; Micropenis; Phenotypic variability; Ptosis; Renal insufficiency; Short femoral neck; Short palpebral fissure; Short stature; Tapered finger; Tetralogy of Fallot; Trigonocephaly; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux; Wormian bones
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
CHRNA715q13.380.73%gene with protein product118511Abnormal facial shape; Autosomal dominant inheritance; Global developmental delay; Intellectual disability; Phenotypic variability
CLCN17q3499.98%gene with protein product118425Autosomal dominant inheritance; Autosomal recessive inheritance; Childhood onset; Dysphagia; EMG abnormality; EMG: myotonic runs; Handgrip myotonia; Muscle hypertrophy of the lower extremities; Myotonia; Phenotypic variability
CLCN17q3499.98%gene with protein product118425Autosomal dominant inheritance; Autosomal recessive inheritance; Childhood onset; Dysphagia; EMG abnormality; EMG: myotonic runs; Handgrip myotonia; Muscle hypertrophy of the lower extremities; Myotonia; Phenotypic variability
CLCN5Xp11.23100%gene with protein product300008NPHL2, NPHL1Aminoaciduria; Bone pain; Bowing of the legs; Bulging epiphyses; Chronic kidney disease; Delayed epiphyseal ossification; Enlargement of the ankles; Enlargement of the wrists; Femoral bowing; Fibular bowing; Focal segmental glomerulosclerosis; Glomerulosclerosis; Glycosuria; Hypercalciuria; Hyperphosphaturia; Hypophosphatemia; Hypophosphatemic rickets; Increased serum 1,25-dihydroxyvitamin D3; Low-molecular-weight proteinuria; Metaphyseal irregularity; Microscopic hematuria; Nephrocalcinosis; Nephrolithiasis; Osteomalacia; Phenotypic variability; Proximal tubulopathy; Recurrent fractures; Renal insufficiency; Renal phosphate wasting; Rickets; Short stature; Slow progression; Sparse bone trabeculae; Thin bony cortex; Tibial bowing; Tubular atrophy; Tubulointerstitial fibrosis; X-linked recessive inheritance
CLCN5Xp11.23100%gene with protein product300008NPHL2, NPHL1Aminoaciduria; Bone pain; Bowing of the legs; Bulging epiphyses; Chronic kidney disease; Delayed epiphyseal ossification; Enlargement of the ankles; Enlargement of the wrists; Femoral bowing; Fibular bowing; Focal segmental glomerulosclerosis; Glomerulosclerosis; Glycosuria; Hypercalciuria; Hyperphosphaturia; Hypophosphatemia; Hypophosphatemic rickets; Increased serum 1,25-dihydroxyvitamin D3; Low-molecular-weight proteinuria; Metaphyseal irregularity; Microscopic hematuria; Nephrocalcinosis; Nephrolithiasis; Osteomalacia; Phenotypic variability; Proximal tubulopathy; Recurrent fractures; Renal insufficiency; Renal phosphate wasting; Rickets; Short stature; Slow progression; Sparse bone trabeculae; Thin bony cortex; Tibial bowing; Tubular atrophy; Tubulointerstitial fibrosis; X-linked recessive inheritance
CLCN5Xp11.23100%gene with protein product300008NPHL2, NPHL1Aminoaciduria; Bone pain; Bowing of the legs; Bulging epiphyses; Chronic kidney disease; Delayed epiphyseal ossification; Enlargement of the ankles; Enlargement of the wrists; Femoral bowing; Fibular bowing; Focal segmental glomerulosclerosis; Glomerulosclerosis; Glycosuria; Hypercalciuria; Hyperphosphaturia; Hypophosphatemia; Hypophosphatemic rickets; Increased serum 1,25-dihydroxyvitamin D3; Low-molecular-weight proteinuria; Metaphyseal irregularity; Microscopic hematuria; Nephrocalcinosis; Nephrolithiasis; Osteomalacia; Phenotypic variability; Proximal tubulopathy; Recurrent fractures; Renal insufficiency; Renal phosphate wasting; Rickets; Short stature; Slow progression; Sparse bone trabeculae; Thin bony cortex; Tibial bowing; Tubular atrophy; Tubulointerstitial fibrosis; X-linked recessive inheritance
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
COL18A121q22.399.59%gene with protein product120328KNOAbnormal vitreous humor morphology; Ataxia; Autosomal recessive inheritance; Band keratopathy; Calvarial skull defect; Cerebellar atrophy; Cerebral atrophy; Congenital cataract; High myopia; Hydrocephalus; Macular degeneration; Macular hypoplasia; Myopia; Nystagmus; Occipital encephalocele; Phenotypic variability; Phthisis bulbi; Polymicrogyria; Progressive visual loss; Retinal detachment; Seizures; Ventriculomegaly; Visual loss; Vitreoretinal degeneration
COQ24q21.2399.98%gene with protein product609825Anemia; Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Dysarthria; Elevated serum creatine phosphokinase; Encephalopathy; Glomerulosclerosis; Hepatic failure; Hypergonadotropic hypogonadism; Hypertrophic cardiomyopathy; Intellectual disability; Lactic acidosis; Motor delay; Nephrotic syndrome; Nystagmus; Onset; Pancytopenia; Phenotypic variability; Postural instability; Progressive muscle weakness; Ragged-red muscle fibers; Recurrent myoglobinuria; Rod-cone dystrophy; Scanning speech; Seizures; Sensorineural hearing impairment; Specific learning disability; Visual lossNephrotic Syndrome
COX1017p12100%gene with protein product602125Abnormal pattern of respiration; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; CNS demyelination; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Glycosuria; Hepatocellular necrosis; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory failure; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
COX1510q24.294.3%gene with protein product603646Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Decreased fetal movement; Dysarthria; Dystonia; Emotional lability; Encephalopathy; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatic steatosis; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Microcephaly; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
CSNK2A120p13100%gene with protein product115440Anteverted nares; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Brachydactyly; Clinodactyly; Constipation; Cortical gyral simplification; Delayed speech and language development; Epicanthus; Feeding difficulties; Generalized hypotonia; Global developmental delay; High palate; Highly arched eyebrow; Hypertelorism; IgA deficiency; IgG deficiency; Intellectual disability; Low-set ears; Microcephaly; Micrognathia; Phenotypic variability; Ptosis; Synophrys; Thin upper lip vermilion; Wide nasal bridge
CTC117p13.1100%gene with protein product613129C17orf68Abnormal blistering of the skin; Abnormal pyramidal signs; Abnormality of coagulation; Abnormality of extrapyramidal motor function; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Ataxia; Autosomal recessive inheritance; Blindness; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Cerebral calcification; Dysarthria; Dystonia; Esophageal stenosis; Exudative retinopathy; Genu valgum; Global developmental delay; Hemiplegia; Hyperhidrosis; Hypermelanotic macule; Hypodontia; Hypopigmented skin patches; Infantile onset; Intestinal bleeding; Intrauterine growth retardation; Leukodystrophy; Leukoencephalopathy; Malabsorption; Mental deterioration; Metaphyseal sclerosis; Morphological abnormality of the pyramidal tract; Nail dysplasia; Nail dystrophy; Optic atrophy; Oral leukoplakia; Osteopenia; Osteoporosis; Pathologic fracture; Periodontitis; Phenotypic variability; Postnatal growth retardation; Progressive; Recurrent fractures; Recurrent respiratory infections; Retinal telangiectasia; Rough bone trabeculation; Scoliosis; Seizures; Short femoral neck; Short stature; Skin ulcer; Sparse hair; Spasticity; Taurodontia; Telangiectasia of the skin; Thin skin; Thrombocytopenia; Tracheoesophageal fistula; Tremor; Urethral stenosisAplastic Anemia ; Bone Marrow Failure Syndromes
DCAF172q31.1100%gene with protein product612515C2orf37Abnormal spermatogenesis; Abnormal T-wave; Abnormality of extrapyramidal motor function; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Choreoathetosis; Decreased serum estradiol; Decreased serum insulin-like growth factor 1; Decreased serum testosterone level; Decreased testicular size; Diabetes mellitus; Dysarthria; Dystonia; Fine hair; Hypergonadotropic hypogonadism; Hyperlipidemia; Hypogonadotrophic hypogonadism; Hypoplasia of the fallopian tube; Hypoplasia of the uterus; Hypothyroidism; Increased thyroid-stimulating hormone level; Insulin-resistant diabetes mellitus; Intellectual disability; Mental deterioration; Micropenis; Phenotypic variability; Premature ovarian insufficiency; Protruding ear; Sensorineural hearing impairment; Sparse hair; Streak ovary
DCLRE1C10p13100%gene with protein product605988SCIDAAbnormal lymphocyte morphology; Absent tonsils; Alopecia; Anemia; Aplasia of the thymus; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; B lymphocytopenia; Chronic diarrhea; Desquamation of skin soon after birth; Diarrhea; Dry skin; Edema; Eosinophilia; Erythroderma; Failure to thrive; Fever; Genital ulcers; Hepatomegaly; Hypoplasia of the thymus; Hypoproteinemia; Lymph node hypoplasia; Lymphadenopathy; Oral ulcer; Otitis media; Panhypogammaglobulinemia; Phenotypic variability; Pneumonia; Pruritus; Recurrent bacterial infections; Recurrent fungal infections; Recurrent upper respiratory tract infections; Recurrent viral infections; Severe B lymphocytopenia; Severe combined immunodeficiency; Splenomegaly; Thickened skin; ThrombocytopeniaInflammatory Bowel Disease ; Primary Immunodeficiency
DES2q35100%gene with protein product125660Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Constipation; Diarrhea; Dilated cardiomyopathy; Distal muscle weakness; Elbow flexion contracture; EMG: myopathic abnormalities; Facial palsy; Foot dorsiflexor weakness; Hypertrophic cardiomyopathy; Hyporeflexia of lower limbs; Late-onset proximal muscle weakness; Muscular dystrophy; Neck muscle weakness; Peroneal muscle atrophy; Phenotypic variability; Progressive; Reduced systolic function; Respiratory insufficiency due to muscle weakness; Restrictive heart failure; Scapular winging; Scapuloperoneal weakness; Shoulder girdle muscle atrophy; Talipes equinovarus
DHCR241p32.3100%gene with protein product606418DCEAbsent septum pellucidum; Agenesis of corpus callosum; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bifid uvula; Depressed nasal bridge; Failure to thrive; Feeding difficulties; Hydrocephalus; Intellectual disability; Intrauterine growth retardation; Large earlobe; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Muscle stiffness; Narrow mouth; Nystagmus; Partial agenesis of the corpus callosum; Phenotypic variability; Relative macrocephaly; Retrognathia; Rigidity; Seizures; Severe short stature; Short nose; Spasticity; Status epilepticus; Strabismus; Submucous cleft hard palate; VentriculomegalyDisorders of Sex Development
DHTKD110p14100%gene with protein product614984Aminoaciduria; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Delayed speech and language development; Difficulty walking; Generalized hypotonia; Global developmental delay; Intellectual disability, mild; Microcephaly; Phenotypic variability; Skeletal muscle atrophy
DIP2B12q13.12100%gene with protein product611379Autosomal dominant inheritance; Hyperkeratosis; Intellectual disability; Phenotypic variability
DPYD1p21.399.97%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. Testing to evaluate for variants that are associated with adverse drug reactions is available at GeneDx (PharmacoDx, J909).612779Abnormal eating behavior; Abnormality of vision; Astigmatism; Autism; Autistic behavior; Autosomal recessive inheritance; Broad nasal tip; Cerebral atrophy; Coloboma; Deeply set eye; Delayed speech and language development; Failure to thrive; Full cheeks; Generalized hypotonia; Global developmental delay; Growth delay; Hyperactivity; Hypertonia; Intellectual disability; Intellectual disability, mild; Lethargy; Long ear; Macrocephaly; Microcephaly; Microphthalmia; Motor delay; Myopia; Nystagmus; Obesity; Optic atrophy; Phenotypic variability; Reduced dihydropyrimidine dehydrogenase activity; Seizures; Short nose; Shyness; Tetraplegia; Upslanted palpebral fissure
DPYS8q22.3100%gene with protein product613326Abnormal facial shape; Abnormality of the cerebral white matter; Anal atresia; Autosomal recessive inheritance; Delayed speech and language development; Excessive daytime somnolence; Extrapyramidal dyskinesia; Feeding difficulties in infancy; Growth delay; Intellectual disability; Lethargy; Metabolic acidosis; Morphological abnormality of the pyramidal tract; Phenotypic variability; Plagiocephaly; Reduced dihydropyrimidine dehydrogenase activity; Seizures; Short phalanx of finger; Talipes equinovarus
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
EBPXp11.23100%gene with protein product300205CDPX22-3 toe syndactyly; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the pinna; Abnormality of the thorax; Alopecia; Aortic valve stenosis; Bilateral talipes equinovarus; Cataract; Concave nasal ridge; Congenital ichthyosiform erythroderma; Congenital onset; Cryptorchidism; Dandy-Walker malformation; Downslanted palpebral fissures; Edema; Elevated 8(9)-cholestenol; Elevated 8-dehydrocholesterol; Epicanthus; Epiphyseal stippling; Erythema; Erythroderma; Failure to thrive; Flat face; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Hearing impairment; Hemiatrophy; Hemivertebrae; High palate; Hydrocephalus; Hydronephrosis; Hyperactivity; Ichthyosis; Intellectual disability; Intellectual disability, moderate; Joint dislocation; Kyphosis; Long fingers; Low-set ears; Malar flattening; Microphthalmia; Microretrognathia; Midface retrusion; Nystagmus; Optic atrophy; Overlapping fingers; Overlapping toe; Patellar dislocation; Phenotypic variability; Polydactyly; Polyhydramnios; Postnatal growth retardation; Prominent nasal bridge; Ptosis; Punctate vertebral calcifications; Scarring alopecia of scalp; Scoliosis; Seizures; Short neck; Short stature; Sparse and thin eyebrow; Sparse eyelashes; Stippled calcification in carpal bones; Tarsal stippling; Tracheal calcification; Tracheal stenosis; Variable expressivity; X-linked dominant inheritance; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
EOGT3p14.1100%gene with protein product614789C3orf64Abnormal pulmonary valve morphology; Abnormality of the metacarpal bones; Absent hand; Absent toe; Aplasia cutis congenita; Autosomal recessive inheritance; Brachydactyly; Calvarial skull defect; Cataract; Cutis marmorata; Failure to thrive; Finger syndactyly; Hydrocephalus; Hypoplastic toenails; Microphthalmia; Phenotypic variability; Pulmonary artery atresia; Short distal phalanx of finger; Sparse hair; Split hand; Strabismus; Talipes; Tetralogy of Fallot; Toenail dysplasia
ERCC416p13.12100%gene with protein product133520XPF, FANCQAbnormality of amino acid metabolism; Abnormality of chromosome stability; Abnormality of the dentition; Absent thumb; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Arteriosclerosis; Arthralgia; Ascites; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Biliary atresia; Bone marrow hypocellularity; Cachexia; Cataract; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Elevated hepatic transaminases; Erythema; Esophageal atresia; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; High pitched voice; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertension; Hypogonadism; Hypopigmented skin patches; Hypoplasia of dental enamel; Infantile onset; Intellectual disability; Intellectual disability, mild; Intellectual disability, progressive; Irregular hyperpigmentation; Keratitis; Lack of subcutaneous fatty tissue; Leukopenia; Low-set ears; Melanoma; Microcephaly; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Papule; Phenotypic variability; Poikiloderma; Poor coordination; Prematurely aged appearance; Pyridoxine-responsive sideroblastic anemia; Retinopathy; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short palpebral fissure; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Thrombocytopenia; Tracheoesophageal fistula; Urticaria; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
ERCC416p13.12100%gene with protein product133520XPF, FANCQAbnormality of amino acid metabolism; Abnormality of chromosome stability; Abnormality of the dentition; Absent thumb; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Arteriosclerosis; Arthralgia; Ascites; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Biliary atresia; Bone marrow hypocellularity; Cachexia; Cataract; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Elevated hepatic transaminases; Erythema; Esophageal atresia; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; High pitched voice; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertension; Hypogonadism; Hypopigmented skin patches; Hypoplasia of dental enamel; Infantile onset; Intellectual disability; Intellectual disability, mild; Intellectual disability, progressive; Irregular hyperpigmentation; Keratitis; Lack of subcutaneous fatty tissue; Leukopenia; Low-set ears; Melanoma; Microcephaly; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Papule; Phenotypic variability; Poikiloderma; Poor coordination; Prematurely aged appearance; Pyridoxine-responsive sideroblastic anemia; Retinopathy; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short palpebral fissure; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Thrombocytopenia; Tracheoesophageal fistula; Urticaria; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCBXp22.299.65%gene with protein product300515Abnormal vertebral morphology; Abnormality of cardiovascular system morphology; Abnormality of chromosome stability; Abnormality of the optic nerve; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anal atresia; Anemia; Aplasia/Hypoplasia of the radius; Aqueductal stenosis; Atrioventricular canal defect; Enlarged kidney; Esophageal atresia; Global developmental delay; Growth delay; Hand polydactyly; Hemivertebrae; Hydrocephalus; Hydronephrosis; Hypopigmented skin patches; Hypoplasia of the radius; Intellectual disability; Intrauterine growth retardation; Irregular hyperpigmentation; Leukopenia; Low-set ears; Microcephaly; Microcornea; Phenotypic variability; Polyhydramnios; Proximal placement of thumb; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Scoliosis; Short humerus; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistula; Transposition of the great arteries; Urethral atresia; Ventriculomegaly; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia ; VACTERL Association
FANCL2p16.1100%gene with protein product608111PHF9Abnormality of chromosome stability; Almond-shaped palpebral fissure; Anemia; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Cafe-au-lait spot; Chromosome breakage; Esophageal atresia; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Phenotypic variability; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FBXL46q16.1-q16.2100%gene with protein product605654Autosomal recessive inheritance; Cerebral atrophy; Concave nasal ridge; Delayed myelination; Downslanted palpebral fissures; Dysphagia; Encephalopathy; Epicanthus; Everted lower lip vermilion; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Growth delay; Hyperalaninemia; Hypoplasia of the corpus callosum; Hypospadias; Increased serum lactate; Lactic acidosis; Leukodystrophy; Microcephaly; Mitochondrial respiratory chain defects; Narrow face; Phenotypic variability; Protruding ear; Seizures; Skeletal muscle atrophy; Small for gestational age; Thick eyebrow
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
FKTN9q31.299.98%gene with protein product607440FCMDAbnormal 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)
FLAD11q21.3100%gene with protein product610595Autosomal recessive inheritance; Dysphagia; Exercise intolerance; Fatty replacement of skeletal muscle; Feeding difficulties; Generalized hypotonia; Myopathy; Organic aciduria; Phenotypic variability; Proximal muscle weakness; Respiratory insufficiencyRhabdomyolysis
FLCN17p11.2100%gene with protein product607273Abnormal renal morphology; Abnormality of abdomen morphology; Abnormality of retinal pigmentation; Abnormality of the cardiovascular system; Abnormality of the hair; Abnormality of the pleura; Autism; Autosomal dominant inheritance; Broad forehead; Delayed myelination; Dental crowding; Dental malocclusion; Downslanted palpebral fissures; Dysphasia; Echolalia; EEG abnormality; Emphysema; Expressive language delay; Failure to thrive; Feeding difficulties in infancy; Fibrofolliculoma; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; High palate; Hyperactivity; Hypermetropia; Hypertelorism; Hypocholesterolemia; Hypoplasia of the corpus callosum; Incomplete penetrance; Intellectual disability, mild; Language impairment; Mandibular prognathia; Microcephaly; Micrognathia; Multiple lipomas; Neoplasm of the stomach; Oral-pharyngeal dysphagia; Papule; Patent foramen ovale; Phenotypic variability; Pneumothorax; Poor eye contact; Prominent nasal tip; Pulmonary sequestration; Receptive language delay; Renal cell carcinoma; Renal cyst; Scoliosis; Seizures; Short stature; Skin tags; Sleep apnea; Small for gestational age; Smooth philtrum; Spontaneous pneumothorax; Sporadic; Stereotypy; Transitional cell carcinoma of the bladder; Triangular face; Trigonocephaly; Uterine leiomyosarcoma; Wide mouth
FOXRED111q24.2100%gene with protein product613622Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
FOXRED111q24.2100%gene with protein product613622Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
FTL19q13.33100%gene with protein product134790Abnormality of metabolism/homeostasis; Anarthria; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Blepharospasm; Bradykinesia; Cataract; Cavitation of the basal ganglia; Chorea; Choreoathetosis; Congenital nuclear cataract; Decreased serum ferritin; Dementia; Disinhibition; Dysarthria; Dysphagia; Dysphonia; Dystonia; Emotional lability; Gait disturbance; Hyperreflexia; Hypomimic face; Increased serum ferritin; Laryngeal dystonia; Mutism; Neurodegeneration; Optic atrophy; Orofacial dyskinesia; Parkinsonism; Phenotypic variability; Progressive; Retinal degeneration; Rigidity; Spastic diplegia; Spasticity; Tremor
G6PC317q21.31100%gene with protein product611045Anemia; Atrial septal defect; Autosomal recessive inheritance; Broad thumb; Cleft palate; Clinodactyly; Cryptorchidism; Erythroid hypoplasia; Failure to thrive; Growth delay; Hearing impairment; Hepatomegaly; High palate; Hypoplasia of the thymus; Lymphopenia; Microcephaly; Mitral regurgitation; Monocytosis; Neutropenia; Patent ductus arteriosus; Pectus carinatum; Phenotypic variability; Pulmonary arterial hypertension; Pulmonic stenosis; Recurrent bacterial infections; Recurrent respiratory infections; Respiratory insufficiency; Sepsis; Single transverse palmar crease; Splenomegaly; Thrombocytopenia; Varicose veins; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
GAN16q23.299.89%gene with protein product605379Abnormal hand morphology; Abnormal pyramidal signs; Abnormality of the Achilles tendon; Abnormality of the cerebellum; Abnormality of the hand; Areflexia; Areflexia of lower limbs; Autosomal recessive inheritance; CNS hypomyelination; Curly hair; Decreased number of peripheral myelinated nerve fibers; Difficulty walking; Diffuse axonal swelling; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Facial palsy; Generalized hypotonia; Hyperreflexia; Hyporeflexia of lower limbs; Intellectual disability; Joint hypermobility; Juvenile onset; Morphological abnormality of the pyramidal tract; Motor axonal neuropathy; Nystagmus; Pes cavus; Pes planus; Phenotypic variability; Pili canaliculi; Proximal muscle weakness; Scoliosis; Sensory axonal neuropathy; Slow progression; Spastic paraplegia; Spasticity; Steppage gait; Talipes equinovarus; Unsteady gait; Woolly hairPolycystic Kidney Disease
GATA23q21.3100%gene with protein productThe published variants deep within intron 4 of GATA2 would not be detected by XomeDxSlice137295Abnormal natural killer cell morphology; Abnormal neutrophil count; Abnormality of the optic nerve; Acute leukemia; Autosomal dominant inheritance; Bone marrow hypocellularity; Bruising susceptibility; Cellulitis; Chronic otitis media; Fatigue; Fever; Hepatomegaly; Hypercoagulability; Immunodeficiency; Intracranial hemorrhage; Lymphedema; Migraine; Monocytopenia; Myelodysplasia; Nausea and vomiting; Neurological speech impairment; Neutropenia; Pallor; Pancytopenia; Phenotypic variability; Prolonged bleeding time; Recurrent fungal infections; Recurrent mycobacterium avium complex infections; Recurrent respiratory infections; Recurrent viral infections; Respiratory failure; Sensorineural hearing impairment; Splenomegaly; Thrombocytopenia; Vertigo; Visual loss; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes
GBA1q2299.84%gene with protein productIncluded in this XomeDxSlice test, but please note that many disease alleles are not detectable by XomeDxSlice.606463GLUCAbdominal pain; Abnormal aortic arch morphology; Abnormal pattern of respiration; Adult onset; Akinesia; Anemia; Anorexia; Anteverted nares; Aortic valve calcification; Apathy; Apnea; Arthrogryposis multiplex congenita; Ascites; Aseptic necrosis; Ataxia; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Bulbar signs; Calcification of the aorta; Cardiomegaly; Cerebral atrophy; Congenital nonbullous ichthyosiform erythroderma; Cough; Death in infancy; Decreased beta-glucocerebrosidase protein and activity; Decreased body weight; Decreased fetal movement; Delayed puberty; Delayed skeletal maturation; Dementia; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dysphagia; Dyspnea; Dystonia; Ectropion; Encephalopathy; Epistaxis; Erlenmeyer flask deformity of the femurs; Esotropia; Everted lower lip vermilion; Everted upper lip vermilion; Failure to thrive; Fatigue; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Gait disturbance; Generalized myoclonic seizures; Gingival bleeding; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High palate; Horizontal nystagmus; Horizontal supranuclear gaze palsy; Hydrocephalus; Hydrops fetalis; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypersplenism; Hypertelorism; Hypertonia; Hypokinesia; Hypometric horizontal saccades; Increased antibody level in blood; Increased bone mineral density; Increased susceptibility to fractures; Interstitial pulmonary abnormality; Intracranial hemorrhage; Intrauterine growth retardation; Kyphosis; Low-set ears; Low-set, posteriorly rotated ears; Macular atrophy; Microcephaly; Micrognathia; Microtia; Mitral valve calcification; Motor delay; Multiple myeloma; Muscular hypotonia; Myoclonus; Narrow mouth; Neonatal death; Neurological speech impairment; Nonimmune hydrops fetalis; Oculomotor apraxia; Opacification of the corneal stroma; Open mouth; Ophthalmoplegia; Opisthotonus; Osteolysis; Osteopenia; Pancytopenia; Pathologic fracture; Pes cavus; Petechiae; Phenotypic variability; Polyhydramnios; Premature birth; Progressive neurologic deterioration; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Recurrent respiratory infections; Respiratory distress; Reticular hyperpigmentation; Retrognathia; Rigidity; Seizures; Short nose; Short stature; Slowed horizontal saccades; Spastic paraparesis; Spasticity; Splenomegaly; Stillbirth; Strabismus; Supranuclear ophthalmoplegia; Thoracic hypoplasia; Thrombocytopenia; Triangular face; Trismus; Vascular calcification; Ventriculomegaly; Vertebral compression fracturesPalmoplantar keratoderma plus congenital ichthyosis
GCH114q22.297.74%gene with protein product600225GCH, DYT5, DYT14Abnormality of eye movement; Abnormality of the substantia nigra; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Brisk reflexes; Childhood onset; Choreoathetosis; Decreased CSF homovanillic acid; Depressivity; Dysphagia; Dystonia; Episodic fever; Excessive salivation; Fatigue; Gait ataxia; Global developmental delay; Hearing impairment; Heterogeneous; Hyperkinesis; Hyperphenylalaninemia; Hyperreflexia; Infantile onset; Intellectual disability, progressive; Irritability; Lethargy; Limb dystonia; Limb hypertonia; Lower limb hyperreflexia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Pes cavus; Phenotypic variability; Postural tremor; Progressive neurologic deterioration; Rigidity; Scoliosis; Seizures; Severe muscular hypotonia; Sleep disturbance; Talipes equinovarus; Torticollis; Transient hyperphenylalaninemia; Tremor; Variable expressivity
GJA16q22.31100%gene with protein product121014ODDD, GJAL2-4 toe cutaneous syndactyly; 3-4 toe syndactyly; 4-5 finger syndactyly; Abnormal blistering of the skin; Abnormal cortical bone morphology; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the cerebral white matter; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the thorax; Absent middle phalanx of 5th finger; Alopecia; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the middle phalanges of the hand; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Bony paranasal bossing; Brachycephaly; Broad alveolar ridges; Broad columella; Broad long bones; Camptodactyly of finger; Carious teeth; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Club-shaped distal femur; Coarse facial features; Conductive hearing impairment; Congenital alopecia totalis; Congestive heart failure; Cranial hyperostosis; Craniofacial hyperostosis; Cubitus valgus; Curly hair; Cutaneous photosensitivity; Cyanosis; Delayed eruption of permanent teeth; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diabetes mellitus; Downslanted palpebral fissures; Dry hair; Dry skin; Dysarthria; Dystrophic fingernails; Epicanthus; Epidermal acanthosis; Erythema; External ear malformation; Facial hyperostosis; Facial palsy; Failure to thrive; Fifth finger distal phalanx clinodactyly; Fine hair; Finger syndactyly; Fingernail dysplasia; First degree atrioventricular block; Flared metaphysis; Fragile nails; Frontal bossing; Gait disturbance; Generalized hyperkeratosis; Glaucoma; High forehead; High hypermetropia; Hip dislocation; Hyperactive deep tendon reflexes; Hypergranulosis; Hypermelanotic macule; Hyperreflexia; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic aortic arch; Hypoplastic left heart; Hypotelorism; Hypotrichosis; Infantile onset; Inlet ventricular septal defect; Intellectual disability; Joint contracture of the 5th finger; Large earlobe; Long nose; Long philtrum; Low-set ears; Macrocephaly; Macrodontia of permanent maxillary central incisor; Mandibular prognathia; Median cleft lip; Metaphyseal dysplasia; Microcephaly; Microcornea; Microdontia; Micrognathia; Microphthalmia; Mild global developmental delay; Mixed hearing impairment; Muscle weakness; Myopia; Nail dysplasia; Narrow mouth; Narrow nasal bridge; Narrow nose; Nasal obstruction; Neurogenic bladder; Optic atrophy; Osteopetrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Paraparesis; Patchy palmoplantar keratoderma; Patchy sclerosis of finger phalanx; Persistent pupillary membrane; Phenotypic variability; Premature loss of primary teeth; Premature loss of teeth; Primum atrial septal defect; Pulmonary arterial hypertension; Reduced number of teeth; Seizures; Selective tooth agenesis; Short 5th finger; Short foot; Short middle phalanx of the 5th finger; Short nose; Short palpebral fissure; Short stature; Skeletal dysplasia; Skin rash; Slow-growing hair; Small hand; Sparse eyelashes; Sparse hair; Spastic paraparesis; Spasticity; Telecanthus; Tetraparesis; Thin anteverted nares; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Vertebral hyperostosis; Visual impairment; Weight loss; Wide nasal bridgeHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis
GLIS39p24.2100%gene with protein product610192ZNF515Autosomal recessive inheritance; Cholestasis; Congenital glaucoma; Congenital hypothyroidism; Depressed nasal bridge; Diabetes mellitus; Epicanthus; Global developmental delay; Hepatic fibrosis; Hepatomegaly; Intrauterine growth retardation; Long philtrum; Low-set ears; Phenotypic variability; Polycystic kidney dysplasia; Portal hypertension; Renal cyst; Thin upper lip vermilion
GLYCTK3p21.2100%gene with protein product610516Aminoaciduria; Autosomal recessive inheritance; Cerebral cortical atrophy; Delayed myelination; Encephalopathy; Failure to thrive; Global developmental delay; Growth delay; Hyperreflexia; Hypsarrhythmia; Intellectual disability; Metabolic acidosis; Microcephaly; Muscular hypotonia of the trunk; Myoclonus; Neonatal hypotonia; Nonketotic hyperglycinemia; Opisthotonus; Phenotypic variability; Seizures; Spastic tetraplegia
GNAS20q13.3299.88%gene with protein product139320GNAS1Abnormality of the musculature; Abnormality of the skin; Adult onset; Agitation; Anxiety; Autosomal dominant inheritance; Basal ganglia calcification; Blindness; Bone pain; Brachydactyly; Broad 1st metacarpal; Bruising susceptibility; Cardiomyopathy; Cataract; Choroid plexus calcification; Coarse facial features; Cognitive impairment; Constrictive median neuropathy; Craniofacial hyperostosis; Decreased circulating ACTH level; Delayed eruption of teeth; Depressed nasal bridge; Depressivity; Diabetes mellitus; Ectopic calcification; Ectopic ossification; Ectopic ossification in muscle tissue; Elevated circulating parathyroid hormone level; Facial asymmetry; Failure to thrive; Fatigue; Fibrous dysplasia of the bones; Full cheeks; Galactorrhea; Generalized hirsutism; Generalized hyperpigmentation; Growth delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Hyperparathyroidism; Hyperphosphatemia; Hypertension; Hyperthyroidism; Hypocalcemia; Hypocalcemic tetany; Hypogonadism; Hypophosphatemia; Hypoplasia of dental enamel; Hypothyroidism; Increased bone mineral density; Increased circulating cortisol level; Increased serum insulin-like growth factor 1; Infantile onset; Intellectual disability; Intestinal polyposis; Juvenile onset; Kyphosis; Large cafe-au-lait macules with irregular margins; Left ventricular hypertrophy; Limitation of joint mobility; Low urinary cyclic AMP response to PTH administration; Macronodular adrenal hyperplasia; Menometrorrhagia; Menstrual irregularities; Mental deterioration; Mood changes; Multiple cafe-au-lait spots; Muscle weakness; Neoplasm; Nephrolithiasis; Nystagmus; Obesity; Osteoma; Osteopenia; Osteoporosis; Pathologic fracture; Phenotypic variability; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary prolactin cell adenoma; Pituitary resistance to thyroid hormone; Polyostotic fibrous dysplasia; Polyphagia; Precocious puberty; Primary hypercorticolism; Progressive; Prolactin excess; Prolactinoma; Pseudohypoparathyroidism; Psychosis; Recurrent fractures; Reduced bone mineral density; Round face; Seizures; Short 4th metacarpal; Short 5th metacarpal; Short fifth metatarsal; Short finger; Short metacarpal; Short metatarsal; Short neck; Short stature; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Somatic mosaicism; Somatic mutation; Sporadic; Striae distensae; Subcutaneous nodule; Thickened calvaria; Thin skin; Truncal obesity; Variable expressivityObesity
GNAS20q13.3299.88%gene with protein product139320GNAS1Abnormality of the musculature; Abnormality of the skin; Adult onset; Agitation; Anxiety; Autosomal dominant inheritance; Basal ganglia calcification; Blindness; Bone pain; Brachydactyly; Broad 1st metacarpal; Bruising susceptibility; Cardiomyopathy; Cataract; Choroid plexus calcification; Coarse facial features; Cognitive impairment; Constrictive median neuropathy; Craniofacial hyperostosis; Decreased circulating ACTH level; Delayed eruption of teeth; Depressed nasal bridge; Depressivity; Diabetes mellitus; Ectopic calcification; Ectopic ossification; Ectopic ossification in muscle tissue; Elevated circulating parathyroid hormone level; Facial asymmetry; Failure to thrive; Fatigue; Fibrous dysplasia of the bones; Full cheeks; Galactorrhea; Generalized hirsutism; Generalized hyperpigmentation; Growth delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Hyperparathyroidism; Hyperphosphatemia; Hypertension; Hyperthyroidism; Hypocalcemia; Hypocalcemic tetany; Hypogonadism; Hypophosphatemia; Hypoplasia of dental enamel; Hypothyroidism; Increased bone mineral density; Increased circulating cortisol level; Increased serum insulin-like growth factor 1; Infantile onset; Intellectual disability; Intestinal polyposis; Juvenile onset; Kyphosis; Large cafe-au-lait macules with irregular margins; Left ventricular hypertrophy; Limitation of joint mobility; Low urinary cyclic AMP response to PTH administration; Macronodular adrenal hyperplasia; Menometrorrhagia; Menstrual irregularities; Mental deterioration; Mood changes; Multiple cafe-au-lait spots; Muscle weakness; Neoplasm; Nephrolithiasis; Nystagmus; Obesity; Osteoma; Osteopenia; Osteoporosis; Pathologic fracture; Phenotypic variability; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary prolactin cell adenoma; Pituitary resistance to thyroid hormone; Polyostotic fibrous dysplasia; Polyphagia; Precocious puberty; Primary hypercorticolism; Progressive; Prolactin excess; Prolactinoma; Pseudohypoparathyroidism; Psychosis; Recurrent fractures; Reduced bone mineral density; Round face; Seizures; Short 4th metacarpal; Short 5th metacarpal; Short fifth metatarsal; Short finger; Short metacarpal; Short metatarsal; Short neck; Short stature; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Somatic mosaicism; Somatic mutation; Sporadic; Striae distensae; Subcutaneous nodule; Thickened calvaria; Thin skin; Truncal obesity; Variable expressivityObesity
GNAS20q13.3299.88%gene with protein product139320GNAS1Abnormality of the musculature; Abnormality of the skin; Adult onset; Agitation; Anxiety; Autosomal dominant inheritance; Basal ganglia calcification; Blindness; Bone pain; Brachydactyly; Broad 1st metacarpal; Bruising susceptibility; Cardiomyopathy; Cataract; Choroid plexus calcification; Coarse facial features; Cognitive impairment; Constrictive median neuropathy; Craniofacial hyperostosis; Decreased circulating ACTH level; Delayed eruption of teeth; Depressed nasal bridge; Depressivity; Diabetes mellitus; Ectopic calcification; Ectopic ossification; Ectopic ossification in muscle tissue; Elevated circulating parathyroid hormone level; Facial asymmetry; Failure to thrive; Fatigue; Fibrous dysplasia of the bones; Full cheeks; Galactorrhea; Generalized hirsutism; Generalized hyperpigmentation; Growth delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Hyperparathyroidism; Hyperphosphatemia; Hypertension; Hyperthyroidism; Hypocalcemia; Hypocalcemic tetany; Hypogonadism; Hypophosphatemia; Hypoplasia of dental enamel; Hypothyroidism; Increased bone mineral density; Increased circulating cortisol level; Increased serum insulin-like growth factor 1; Infantile onset; Intellectual disability; Intestinal polyposis; Juvenile onset; Kyphosis; Large cafe-au-lait macules with irregular margins; Left ventricular hypertrophy; Limitation of joint mobility; Low urinary cyclic AMP response to PTH administration; Macronodular adrenal hyperplasia; Menometrorrhagia; Menstrual irregularities; Mental deterioration; Mood changes; Multiple cafe-au-lait spots; Muscle weakness; Neoplasm; Nephrolithiasis; Nystagmus; Obesity; Osteoma; Osteopenia; Osteoporosis; Pathologic fracture; Phenotypic variability; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary prolactin cell adenoma; Pituitary resistance to thyroid hormone; Polyostotic fibrous dysplasia; Polyphagia; Precocious puberty; Primary hypercorticolism; Progressive; Prolactin excess; Prolactinoma; Pseudohypoparathyroidism; Psychosis; Recurrent fractures; Reduced bone mineral density; Round face; Seizures; Short 4th metacarpal; Short 5th metacarpal; Short fifth metatarsal; Short finger; Short metacarpal; Short metatarsal; Short neck; Short stature; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Somatic mosaicism; Somatic mutation; Sporadic; Striae distensae; Subcutaneous nodule; Thickened calvaria; Thin skin; Truncal obesity; Variable expressivityObesity
HADH4q25100%gene with protein product601609HADHSCAbnormality of acetylcarnitine metabolism; Autosomal recessive inheritance; Confusion; Decreased activity of 3-hydroxyacyl-CoA dehydrogenase; Diarrhea; Dicarboxylic aciduria; Dilated cardiomyopathy; Elevated hepatic transaminases; Fasting hyperinsulinemia; Feeding difficulties in infancy; Fulminant hepatic failure; Generalized hypotonia; Growth delay; Hepatic necrosis; Hepatic steatosis; Heterogeneous; Hyperinsulinemic hypoglycemia; Hypertrophic cardiomyopathy; Hypoglycemic coma; Hypoglycemic encephalopathy; Hypoglycemic seizures; Hypoketotic hypoglycemia; Increased C-peptide level; Increased circulating free fatty acid level; Intellectual disability; Intrauterine growth retardation; Lethargy; Muscular hypotonia; Myoglobinuria; Neonatal hypoglycemia; Neonatal hypotonia; Phenotypic variability; Proportionate short stature; VomitingRhabdomyolysis
HESX13p14.399.93%gene with protein product601802Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Amenorrhea; Anosmia; Anterior hypopituitarism; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Central hypothyroidism; Cleft palate; Coarse facial features; Constipation; Cryptorchidism; Decreased circulating ACTH level; Decreased fertility; Decreased testicular size; Delayed puberty; Depressed nasal ridge; Diabetes insipidus; Ectopic posterior pituitary; Erectile abnormalities; Failure to thrive; Fatigue; Feeding difficulties; Global developmental delay; Growth hormone deficiency; Hemiplegia/hemiparesis; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hyposmia; Hypotension; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Micropenis; Muscular hypotonia; Nystagmus; Optic disc hypoplasia; Optic nerve hypoplasia; Oral cleft; Osteopenia; Phenotypic variability; Pituitary hypothyroidism; Polydactyly; Reduced bone mineral density; Seizures; Septo-optic dysplasia; Short finger; Short stature; Sleep disturbance; Strabismus; Umbilical hernia; Visual impairment
HNF1B17q12100%gene with protein product189907TCF2Atretic vas deferens; Autosomal dominant inheritance; Biliary tract abnormality; Cerebral cortical atrophy; Decreased numbers of nephrons; Diabetes mellitus; Elevated hepatic transaminases; Elevated serum creatinine; Epididymal cyst; Glucose intolerance; Glycosuria; Gout; Hypospadias; Insulin resistance; Late onset; Multicystic kidney dysplasia; Nephrolithiasis; Onset; Phenotypic variability; Proteinuria; Reduced sperm motility; Short stature; Stage 5 chronic kidney disease; Type II diabetes mellitus; Ureteropelvic junction obstructionCongenital Kidney and Urinary Tract (CKUT) Anomalies; Polycystic Kidney Disease
HSD17B10Xp11.22100%gene with protein product300256HADH2, MRXS10Abnormality of movement; Aggressive behavior; Agitation; Arachnodactyly; Behavioral abnormality; Broad-based gait; Cerebral cortical atrophy; Choreoathetosis; Delayed speech and language development; Developmental regression; Dysarthria; Generalized hypotonia; Global developmental delay; Hallucinations; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Infantile axial hypotonia; Infantile onset; Intellectual disability; Lactic acidosis; Lumbar hyperlordosis; Metabolic acidosis; Motor delay; Nystagmus; Optic atrophy; Phenotypic variability; Progressive neurologic deterioration; Psychosis; Retinal degeneration; Seizures; Sensorineural hearing impairment; Spastic tetraplegia; Spasticity; Visual loss; X-linked dominant inheritance; X-linked recessive inheritance
HSD17B45q23.199.97%gene with protein product601860Abnormal facial shape; Aplasia/Hypoplasia of the cerebellum; Autosomal recessive inheritance; Bile duct proliferation; Calcific stippling; Cerebral dysmyelination; Cholestasis; Corpus callosum atrophy; Cortical dysplasia; Decreased muscle mass; Delayed cranial suture closure; Delayed skeletal maturation; Depressed nasal bridge; Elevated hepatic transaminases; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Fetal ascites; Frontal bossing; Gait ataxia; Generalized cerebral atrophy/hypoplasia; Gliosis; Global developmental delay; Gonadal dysgenesis; Hammertoe; Hepatic steatosis; Hepatomegaly; High forehead; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Increased circulating gonadotropin level; Infantile onset; Large fontanelles; Limited extraocular movements; Long philtrum; Low-set ears; Macrocephaly; Micrognathia; Neonatal hypotonia; Nystagmus; Osteopenia; Osteoporosis; Pectus excavatum; Pes cavus; Phenotypic variability; Polyhydramnios; Polymicrogyria; Primary adrenal insufficiency; Primary amenorrhea; Renal cyst; Retrognathia; Scaphocephaly; Scoliosis; Seizures; Sensorineural hearing impairment; Short stature; Split hand; Strabismus; Talipes equinovarus; Thoracic hypoplasia; Undetectable electroretinogram; Upslanted palpebral fissure; Ventriculomegaly; Visual impairment; Visual loss
INPP5E9q34.3100%gene with protein product613037JBTS1Abnormality of saccadic eye movements; Abnormality of the foot; Agenesis of cerebellar vermis; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Childhood-onset truncal obesity; Chorioretinal coloboma; Congenital hepatic fibrosis; Delayed speech and language development; Dysgenesis of the cerebellar vermis; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hemifacial spasm; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Highly arched eyebrow; Hyperactivity; Hyperreflexia; Hypoplasia of the brainstem; Impaired smooth pursuit; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Long face; Low-set ears; Macrocephaly; Macroglossia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Neonatal breathing dysregulation; Nephropathy; Nystagmus; Oculomotor apraxia; Optic nerve coloboma; Phenotypic variability; Postaxial hand polydactyly; Prominent forehead; Protruding tongue; Ptosis; Retinal dystrophy; Self-mutilation; Triangular-shaped open mouth; Truncal obesity; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
ITGA317q21.33100%gene with protein product605025MSK18Autosomal recessive inheritance; Decreased glomerular filtration rate; Fine hair; Fragile skin; Gynecomastia; Hypertelorism; Hypoalbuminemia; Macrotia; Microcephaly; Narrow chest; Narrow mouth; Neonatal respiratory distress; Phenotypic variability; Prominent forehead; Proteinuria; Renal insufficiency; Respiratory acidosis; Round face; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Tubular atrophyNephrotic Syndrome
KCNQ220q13.33100%gene with protein product602235EBN, EBN1Abnormal globus pallidus morphology; Abnormality of vision; Apnea; Autosomal dominant inheritance; Cerebral edema; Choreoathetosis; Deeply set eye; Dysesthesia; Dyskinesia; Dystonia; EEG with burst suppression; Epileptic encephalopathy; Epileptic spasms; Facial erythema; Feeding difficulties; Focal clonic seizures; Generalized hypotonia; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Heterogeneous; Hypertonia; Inability to walk; Infantile onset; Intellectual disability; Muscular hypotonia; Myoclonus; Myokymia; Neonatal onset; Pallor; Phenotypic variability; Poor gross motor coordination; Profound global developmental delay; Reduced consciousness/confusion; Seizures; Spastic tetraparesis
KIF5A12q13.3100%gene with protein product602821SPG10Ankle clonus; Athetosis; Autosomal dominant inheritance; Babinski sign; Chorea; Congenital onset; Cortical visual impairment; Delayed myelination; Developmental stagnation; Distal sensory impairment; Dysphagia; Feeding difficulties; Generalized hypotonia; Hyperreflexia; Impaired vibration sensation in the lower limbs; Knee clonus; Lower limb muscle weakness; Microcephaly; Nystagmus; Pes cavus; Phenotypic variability; Progressive; Progressive leukoencephalopathy; Ptosis; Scoliosis; Spastic gait; Spastic paraplegia; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency
KIF715q26.199.94%gene with protein product611254Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of epiphysis morphology; Abnormality of the sense of smell; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid distal phalanx of the thumb; Bifid uvula; Brachydactyly; Brain atrophy; Broad forehead; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Dandy-Walker malformation; Deeply set eye; Downslanted palpebral fissures; Duplication of phalanx of hallux; Duplication of thumb phalanx; Epicanthus; Failure to thrive; Finger syndactyly; Frontal bossing; Genu valgum; Gingival cleft; Growth delay; Heterogeneous; Hydrocephalus; Hypertelorism; Hypopigmentation of the fundus; Inguinal hernia; Intellectual disability, severe; Joint dislocation; Laryngomalacia; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Malar flattening; Micrognathia; Molar tooth sign on MRI; Multiple epiphyseal dysplasia; Obesity; Osteoarthritis; Pectus carinatum; Pectus excavatum; Phenotypic variability; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Postnatal growth retardation; Preauricular skin tag; Preaxial foot polydactyly; Preaxial hand polydactyly; Preaxial polydactyly; Premature birth; Prominent forehead; Prominent occiput; Rectovaginal fistula; Retrognathia; Short neck; Short nose; Sloping forehead; Submucous cleft hard palate; Toe syndactyly; Tracheal atresia; Triangular mouth; Triphalangeal thumb; Umbilical hernia; Unilateral cleft lip; Ventriculomegaly; Wide anterior fontanelHeterotaxy
KLF1315q13.399.31%gene with protein product605328Abnormal facial shape; Autosomal dominant inheritance; Phenotypic variability
LAMP2Xq2499.42%gene with protein product309060Arrhythmia; Cardiomegaly; Cardiorespiratory arrest; Cognitive impairment; Dilated cardiomyopathy; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Exercise intolerance; Exercise-induced muscle cramps; Gait disturbance; Generalized amyotrophy; Global developmental delay; Hypertrophic cardiomyopathy; Hypokinesia; Intellectual disability; Muscle flaccidity; Myocardial fibrosis; Myocardial necrosis; Pes cavus; Phenotypic variability; Proximal muscle weakness; Visual impairment; Wolff-Parkinson-White syndrome; X-linked dominant inheritanceRhabdomyolysis
LARGE122q12.3100%gene with protein productFormer name = LARGE603590LARGEAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of neuronal migration; Abnormality of the periventricular 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; Babinski sign; Blindness; Buphthalmos; Cataract; 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; Decreased light- and dark-adapted electroretinogram amplitude; EEG abnormality; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Horizontal nystagmus; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Joint contracture of the hand; Lissencephaly; Lower limb hyperreflexia; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal muscle weakness; Renal dysplasia; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Short stature; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Type II lissencephaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg)
MC4R18q21.32100%gene with protein product155541Autosomal dominant inheritance; Autosomal recessive inheritance; Childhood-onset truncal obesity; Decreased resting energy expenditure; Increased adipose tissue; Obesity; Phenotypic variability; Polygenic inheritance; PolyphagiaObesity
MCCC13q27.1100%gene with protein product609010Abnormality of leucine metabolism; Abnormality of movement; Acute hepatic steatosis; Acute hyperammonemia; Autosomal recessive inheritance; Coma; Episodic metabolic acidosis; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Heterogeneous; Hyperammonemia; Hyperreflexia; Hypoglycemia; Intellectual disability; Ketonuria; Lethargy; Muscular hypotonia; Opisthotonus; Organic aciduria; Phenotypic variability; Seizures; Vomiting
MCCC25q13.2100%gene with protein product609014Abnormality of leucine metabolism; Abnormality of movement; Acute hyperammonemia; Alopecia; Autosomal recessive inheritance; Coma; Failure to thrive; Failure to thrive in infancy; Feeding difficulties; Generalized hypotonia; Global developmental delay; Heterogeneous; Hyperammonemia; Hyperglycinuria; Hyperreflexia; Hypoglycemia; Intellectual disability; Ketoacidosis; Lethargy; Metabolic acidosis; Muscular hypotonia; Opisthotonus; Organic aciduria; Phenotypic variability; Propionyl-CoA carboxylase deficiency; Seborrheic dermatitis; Seizures; Skeletal muscle atrophy; Vomiting
MORC222q12.2100%gene with protein product616661ZCWCC1Autosomal dominant inheritance; Difficulty walking; Distal sensory impairment; Fasciculations; Foot dorsiflexor weakness; Generalized hypotonia; Hearing impairment; High pitched voice; Muscle cramps; Myokymia; Pes cavus; Phenotypic variability; Slow progression
MPV172p23.3100%gene with protein product137960Abnormality of the foot; Abnormality of the immune system; Acral ulceration and osteomyelitis leading to autoamputation of digits; Acute hepatic failure; Areflexia; Ataxia; Autosomal recessive inheritance; Cirrhosis; Decreased number of peripheral myelinated nerve fibers; Diarrhea; Distal muscle weakness; Dystonia; Elevated hepatic transaminases; Failure to thrive; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hypoglycemia; Hyporeflexia; Increased susceptibility to fractures; Infantile onset; Lactic acidosis; Macrovesicular hepatic steatosis; Microvesicular hepatic steatosis; Nystagmus; Osteomyelitis leading to amputation due to slow healing fractures; Pain insensitivity; Painless fractures due to injury; Phenotypic variability; Progressive; Prolonged neonatal jaundice; Recurrent corneal erosions; Reye syndrome-like episodes; Sensorimotor neuropathy; Short stature; Vomiting
MTFMT15q22.3199.98%gene with protein product611766Abnormality of the cerebral white matter; Autosomal recessive inheritance; Cognitive impairment; Delayed speech and language development; Global developmental delay; Incoordination; Increased CSF lactate; Phenotypic variability; Unsteady gait
MYBPC112q23.2100%gene with protein product160794Adducted thumb; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Camptodactyly; Camptodactyly of finger; Contractures involving the joints of the feet; Distal arthrogryposis; Joint stiffness; Overlapping fingers; Phenotypic variability; Skeletal muscle atrophy; Talipes; Ulnar deviation of finger
MYH714q11.2100%gene with protein product160760CMH1, MPD1Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system; Amyotrophy of ankle musculature; Arrhythmia; Asymmetric septal hypertrophy; Atrial fibrillation; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Calf muscle pseudohypertrophy; Centrally nucleated skeletal muscle fibers; Chest pain; Childhood onset; Congenital onset; Congestive heart failure; Decreased fetal movement; Dilated cardiomyopathy; Distal muscle weakness; Dysphagia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Failure to thrive; Fatigue; Feeding difficulties; Gait disturbance; Generalized limb muscle atrophy; Generalized muscle weakness; Heterogeneous; High palate; Hypertrophic cardiomyopathy; Imperforate tricuspid valve; Infantile onset; Long face; Lumbar hyperlordosis; Mildly elevated creatine phosphokinase; Myalgia; Narrow face; Neck muscle weakness; Neonatal hypotonia; Onset; Patent ductus arteriosus; Pes cavus; Phenotypic variability; Premature birth; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Reduced vital capacity; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Right bundle branch block; Scapular winging; Scapuloperoneal amyotrophy; Scapuloperoneal myopathy; Scapuloperoneal weakness; Scoliosis; Slow progression; Subvalvular aortic stenosis; Sudden death; Toe extensor amyotrophy; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Waddling gait; Weak cry; Weakness of facial musculature; Weakness of long finger extensor muscles
NARS211q14.198.51%gene with protein product612803DFNB94Agenesis of corpus callosum; Autosomal recessive inheritance; Cortical visual impairment; Elevated serum creatine phosphokinase; Facial palsy; Feeding difficulties; Focal segmental glomerulosclerosis; Generalized hypotonia; Gliosis; Increased serum lactate; Microcephaly; Muscular hypotonia; Myopathy; Neurodegeneration; Neuronal loss in central nervous system; Nystagmus; Optic atrophy; Phenotypic variability; Proximal muscle weakness; Ptosis; Skeletal muscle atrophy; Spasticity
NDUFA1Xq24100%gene with protein product300078Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFA102q37.399.89%gene with protein product603835Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFA1119p13.3100%gene with protein product612638Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFA1212q22100%gene with protein product614530Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFA25q31.3100%gene with protein product602137Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFA912p13.3100%gene with protein product603834NDUFS2LAbnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFAF115q15.1100%gene with protein product606934Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF25q12.199.69%gene with protein product609653NDUFA12LAbnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF25q12.199.69%gene with protein product609653NDUFA12LAbnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF33p21.31100%gene with protein product612911C3orf60Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF46q16.1100%gene with protein product611776C6orf66Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF520p12.199.97%gene with protein product612360C20orf7Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF68q22.1100%gene with protein product612392C8orf38Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFB32q33.1100%gene with protein product603839Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFB98q24.13100%gene with protein product601445Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS12q33.399.99%gene with protein product157655Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS21q23.3100%gene with protein product602985Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Blurred vision; Central scotoma; Centrocecal scotoma; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Mitochondrial respiratory chain defects; Muscle weakness; Nystagmus; Optic atrophy; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Retinal telangiectasia; Retinal vascular tortuosity; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Slow decrease in visual acuity; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS311p11.2100%gene with protein product603846Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS311p11.2100%gene with protein product603846Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS45q11.2100%gene with protein product602694Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS45q11.2100%gene with protein product602694Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS65p15.33100%gene with protein product603848Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS719p13.3100%gene with protein product601825Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFS811q13.2100%gene with protein product602141Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFV111q13.2100%gene with protein product161015Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFV218p11.22100%gene with protein product600532Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NFIA1p31.3100%gene with protein product600727Agenesis of corpus callosum; Anteverted nares; Arnold-Chiari type I malformation; Broad face; Broad forehead; Cognitive impairment; Cutis marmorata; Generalized hypotonia; Global developmental delay; Hydronephrosis; Hypoplasia of the corpus callosum; Inguinal hernia; Intellectual disability; Low-set ears; Macrocephaly; Narrow mouth; Phenotypic variability; Renal hypoplasia; Seizures; Short chin; Short nose; Sporadic; Syringomyelia; Thin upper lip vermilion; Ventriculomegaly; Vesicoureteral reflux
NHP25q35.3100%gene with protein product606470NOLA2Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Autosomal recessive inheritance; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Cirrhosis; Epiphora; Esophageal stenosis; Esophageal stricture; Global developmental delay; Growth delay; Hepatic fibrosis; Hyperhidrosis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypodontia; Hypopigmented skin patches; Intellectual disability; Intrauterine growth retardation; Malabsorption; Microcephaly; Microdontia; Nail dysplasia; Nail dystrophy; Nasolacrimal duct obstruction; Oral leukoplakia; Osteoporosis; Pancytopenia; Periodontitis; Phenotypic variability; Pterygium of nails; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Reticulated skin pigmentation; Rough bone trabeculation; Short stature; Skin ulcer; Small nail; Sparse eyelashes; Sparse hair; Sparse scalp hair; Taurodontia; Telangiectasia of the skin; Testicular atrophy; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosisAplastic Anemia ; Bone Marrow Failure Syndromes
NIPBL5p13.299.9%gene with protein product6086672-3 toe syndactyly; Abnormality of the umbilicus; Abnormally low-pitched voice; Anteverted nares; Anxiety; Astigmatism; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Congenital diaphragmatic hernia; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Dislocated radial head; Downturned corners of mouth; Duplication of internal organs; Ectopic kidney; Elbow dislocation; Elbow flexion contracture; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Hand oligodactyly; Hiatus hernia; High palate; High, narrow palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplasia of the radius; Hypoplastic labia majora; Hypoplastic male external genitalia; Hypoplastic nipples; Hypoplastic radial head; Hypospadias; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow extension; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Malrotation of colon; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Phocomelia; Phthisis bulbi; Pneumonia; Premature birth; Proptosis; Proximal placement of thumb; Ptosis; Pyloric stenosis; Radioulnar synostosis; Reduced renal corticomedullary differentiation; Seizures; Self-injurious behavior; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Short sternum; Single transverse palmar crease; Sleep disturbance; Small hand; Sporadic; Strabismus; Supernumerary ribs; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Thrombocytopenia; Toe syndactyly; Ventricular septal defect; Vesicoureteral reflux; Weak cry; Widely spaced teeth
NKX2-114q13.3100%gene with protein product600635NKX2A, BCH, TITF1Abdominal distention; Anxiety; Ataxia; Atrial septal defect; Autosomal dominant inheritance; Chorea; Choreoathetosis; Coarse facial features; Compensated hypothyroidism; Congenital hypothyroidism; Congenital onset; Constipation; Difficulty walking; Dysarthria; Dystonia; Fatigue; Feeding difficulties; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypersomnia; Hypothyroidism; Increased thyroid-stimulating hormone level; Intellectual disability, severe; Juvenile onset; Large fontanelles; Macroglossia; Motor delay; Muscle weakness; Muscular hypotonia; Neonatal respiratory distress; Phenotypic variability; Recurrent respiratory infections; Respiratory distress; Short stature; Thyroid agenesis; Ventricular septal defect
NLRP1219q13.42100%gene with protein product609648NALP12Abdominal pain; Arthralgia; Autosomal dominant inheritance; Elevated C-reactive protein level; Episodic fever; Headache; Infantile onset; Myalgia; Phenotypic variability; Recurrent aphthous stomatitis; Sensorineural hearing impairment; Skin rash; Urticaria
NOP1015q14100%gene with protein product606471NOLA3Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Autosomal recessive inheritance; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Epiphora; Esophageal stenosis; Esophageal stricture; Global developmental delay; Hepatic fibrosis; Hyperhidrosis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypodontia; Hypopigmented skin patches; Intellectual disability; Intrauterine growth retardation; Malabsorption; Microcephaly; Microdontia; Nail dysplasia; Nail dystrophy; Nasolacrimal duct obstruction; Oral leukoplakia; Osteoporosis; Periodontitis; Phenotypic variability; Pterygium of nails; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Rough bone trabeculation; Short stature; Skin ulcer; Small nail; Sparse eyelashes; Sparse hair; Sparse scalp hair; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosisAplastic Anemia ; Bone Marrow Failure Syndromes
NOTCH19q34.399.98%gene with protein product190198TAN1Abnormal pulmonary valve morphology; Abnormality of the metacarpal bones; Absent hand; Absent toe; Aortic arch aneurysm; Aortic regurgitation; Aortic valve calcification; Aortic valve stenosis; Aplasia cutis congenita; Autosomal dominant inheritance; Bicuspid aortic valve; Brachydactyly; Calvarial skull defect; Cataract; Cavernous hemangioma; Coarctation of aorta; Cutis marmorata; Cutis marmorata telangiectatica congenita; Dystrophic toenail; Failure to thrive; Finger syndactyly; Heart murmur; Hydrocephalus; Hypertension; Microphthalmia; Phenotypic variability; Pulmonary arterial hypertension; Pulmonary artery atresia; Pulmonic stenosis; Right ventricular hypertrophy; Short distal phalanx of finger; Sparse hair; Split hand; Strabismus; Syndactyly; Talipes; Tetralogy of Fallot; Thoracic aorta calcification
NOTCH21p1299.71%gene with protein product600275Abnormal cardiac septum morphology; Abnormality of the fingernails; Absent frontal sinuses; Anteverted nares; Arnold-Chiari malformation; Arthralgia; Atrial septal defect; Autosomal dominant inheritance; Basilar impression; Biconcave vertebral bodies; Bone pain; Brachydactyly; Broad forehead; Cervical instability; Cholestasis; Cholestatic liver disease; Coarse facial features; Conductive hearing impairment; Crowded carpal bones; Cryptorchidism; Decreased skull ossification; Dental malocclusion; Dislocated radial head; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Elongated sella turcica; Epicanthus; Failure to thrive; Foot acroosteolysis; Full cheeks; Generalized hirsutism; Genu valgum; Hearing impairment; Hematuria; High palate; Hirsutism; Hydrocephalus; Hypertelorism; Hypertension; Hypoplastic 5th lumbar vertebrae; Hypospadias; Inguinal hernia; Joint hyperflexibility; Joint laxity; Kyphoscoliosis; Large earlobe; Long eyelashes; Long nose; Long philtrum; Low-set ears; Macrocephaly; Micrognathia; Narrow mouth; Open bite; Osteolysis; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Partial absence of toe; Patent ductus arteriosus; Pathologic fracture; Periodontitis; Peripheral pulmonary artery stenosis; Phenotypic variability; Platybasia; Pointed chin; Posterior embryotoxon; Premature loss of teeth; Prominent occiput; Proteinuria; Pulmonic stenosis; Recurrent fractures; Renal cyst; Renal hypoplasia; Renal insufficiency; Renal tubular acidosis; Scoliosis; Short distal phalanx of finger; Short nail; Short neck; Short stature; Short toe; Skeletal dysplasia; Synophrys; Tall lumbar vertebral bodies; Telecanthus; Tetralogy of Fallot; Thick eyebrow; Thin vermilion border; Triangular face; Umbilical hernia; Vertebral compression fractures; Wide nose; Wormian bonesVACTERL Association
NPC118q11.2100%gene with protein product607623Abnormal cholesterol homeostasis; Ataxia; Autosomal recessive inheritance; Bone-marrow foam cells; Cataplexy; Dementia; Dysarthria; Dysphagia; Dystonia; Fatal liver failure in infancy; Fetal ascites; Foam cells in visceral organs and CNS; Generalized hypotonia; Global developmental delay; Hepatomegaly; Heterogeneous; Intellectual disability; Loss of speech; Low cholesterol esterification rates; Neurofibrillary tangles; Neuronal loss in central nervous system; Onset; Phenotypic variability; Prolonged neonatal jaundice; Psychosis; Sea-blue histiocytosis; Seizures; Spasticity; Splenomegaly; Vertical supranuclear gaze palsy
NR0B21p36.11100%gene with protein product604630Autosomal dominant inheritance; Autosomal recessive inheritance; Decreased resting energy expenditure; Obesity; Phenotypic variability; Polygenic inheritanceObesity
NR3C24q3199.95%gene with protein product600983MLRAutosomal dominant inheritance; Decreased circulating aldosterone level; Decreased circulating renin level; Dehydration; Diarrhea; Failure to thrive; Feeding difficulties; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hypertension; Hyponatremia; Hypotension; Increased circulating renin level; Infantile onset; Maternal hypertension; Metabolic acidosis; Phenotypic variability; Pseudohypoaldosteronism; Vomiting
NUBPL14q1299.86%gene with protein product613621C14orf127Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
OCLN5q13.282.5%gene with protein product602876Abnormality of movement; Anteverted nares; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Decreased liver function; Elevated hepatic transaminases; Failure to thrive; Global developmental delay; Hepatomegaly; High palate; Hyperreflexia; Increased CSF protein; Intellectual disability, profound; Jaundice; Lissencephaly; Long philtrum; Low-set ears; Microcephaly; Microretrognathia; Muscular hypotonia of the trunk; Nystagmus; Pachygyria; Petechiae; Phenotypic variability; Polymicrogyria; Seizures; Sloping forehead; Spasticity; Splenomegaly; Thrombocytopenia; Ventriculomegaly
OPA13q2999.94%gene with protein product605290Abnormal amplitude of pattern reversal visual evoked potentials; Abnormal auditory evoked potentials; Abnormality of color vision; Achilles tendon contracture; Adductor longus contractures; Apnea; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Breech presentation; Caesarian section; Central scotoma; Centrocecal scotoma; Cerebellar atrophy; Dysmetria; Feeding difficulties in infancy; Gait disturbance; Hamstring contractures; Horizontal nystagmus; Hyperreflexia; Hypertrophic cardiomyopathy; Impaired pain sensation; Incomplete penetrance; Increased variability in muscle fiber diameter; Insidious onset; Intellectual disability; Motor delay; Muscular hypotonia of the trunk; Myopathy; Nystagmus; Ophthalmoplegia; Opisthotonus; Optic atrophy; Peripheral neuropathy; Phenotypic variability; Profound global developmental delay; Progressive; Progressive sensorineural hearing impairment; Progressive spasticity; Progressive visual loss; Ptosis; Red-green dyschromatopsia; Reduced tendon reflexes; Reduced visual acuity; Retinal degeneration; Sensorineural hearing impairment; Skeletal muscle atrophy; Strabismus; Tremor; Tritanomaly; Visual impairment; Weak cry
OSBPL220q13.33100%gene with protein product606731Autosomal dominant inheritance; Phenotypic variability; Sensorineural hearing impairment; Tinnitus
OTUD6B8q21.399.96%gene with protein product612021Autistic behavior; Autosomal recessive inheritance; Brachycephaly; Broad thumb; Cryptorchidism; Downslanted palpebral fissures; Failure to thrive; Feeding difficulties; Flat occiput; Flexion contracture; Generalized hypotonia; Global developmental delay; Hearing impairment; High palate; Highly arched eyebrow; Hypoplasia of the corpus callosum; Inability to walk; Intellectual disability, severe; Intrauterine growth retardation; Long eyelashes; Long face; Long palpebral fissure; Long philtrum; Low-set ears; Macrotia; Microcephaly; Overlapping toe; Phenotypic variability; Prominent nasal bridge; Protruding ear; Retrognathia; Sacral dimple; Scoliosis; Short neck; Short stature; Spastic tetraplegia; Talipes equinovarus; Tapered finger; Thin upper lip vermilion; Ventriculomegaly; Wide nasal bridge
PAX210q24.31100%gene with protein product167409Abnormality of the foot; Arnold-Chiari type I malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Chorioretinal atrophy; Congenital onset; Focal segmental glomerulosclerosis; Gliosis; Hyperextensible skin; Hypertelorism; Hypertension; Incomplete penetrance; Infantile onset; Intellectual disability; Joint laxity; Low-set ears; Microphthalmia; Morning glory anomaly; Multicystic kidney dysplasia; Myopia; Nephrotic syndrome; Oligohydramnios; Optic nerve coloboma; Optic nerve dysplasia; Orbital cyst; Phenotypic variability; Potter facies; Primary amenorrhea; Proteinuria; Pulmonary hypoplasia; Renal agenesis; Renal dysplasia; Renal hypoplasia; Renal insufficiency; Retinal coloboma; Retrognathia; Seizures; Sensorineural hearing impairment; Soft skin; Stage 5 chronic kidney disease; Talipes equinovarus; Vaginal atresia; Variable expressivity; Vesicoureteral reflux; Visual impairmentCongenital Kidney and Urinary Tract (CKUT) Anomalies; Nephrotic Syndrome
PCSK15q1599.95%gene with protein product162150NEC1Central adrenal insufficiency; Childhood-onset truncal obesity; Cholestasis; Decreased circulating cortisol level; Diarrhea; Hypogonadotrophic hypogonadism; Hypopigmentation of the skin; Increased adipose tissue; Malabsorption; Obesity; Phenotypic variability; Polyphagia; Primary amenorrhea; Reactive hypoglycemia; Red hair; Sporadic; Villous atrophyObesity
PDHA1Xp22.1299.65%gene with protein product300502PDHAAbnormality of eye movement; Agenesis of corpus callosum; Anteverted nares; Apneic episodes precipitated by illness, fatigue, stress; Basal ganglia cysts; Cerebral atrophy; Choreoathetosis; Chronic lactic acidosis; Decreased activity of the pyruvate dehydrogenase complex; Dystonia; Episodic ataxia; Flared nostrils; Frontal bossing; Generalized hypotonia; Global developmental delay; Hyperalaninemia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lethargy; Long philtrum; Microcephaly; Phenotypic variability; Ptosis; Seizures; Severe lactic acidosis; Small for gestational age; Ventriculomegaly; Wide nasal bridge; X-linked dominant inheritance
PGK1Xq21.199.85%gene with protein product311800Ataxia; Delayed speech and language development; Emotional lability; Exercise intolerance; Exercise-induced muscle cramps; Exercise-induced myoglobinuria; Intellectual disability; Migraine; Phenotypic variability; Reticulocytosis; Rhabdomyolysis; Seizures; X-linked recessive inheritanceHemolytic Anemia ; Rhabdomyolysis
PHEXXp22.1199.84%gene with protein product300550HYP, HPDRAbnormality of dental enamel; Abnormality of pelvic girdle bone morphology; Abnormality of the metaphysis; Arthralgia; Bone pain; Bowing of the legs; Craniosynostosis; Elevated alkaline phosphatase; Elevated circulating parathyroid hormone level; Enthesitis; Femoral bowing; Fibular bowing; Flattening of the talar dome; Frontal bossing; Genu varum; Hypomineralization of enamel; Hypophosphatemia; Hypophosphatemic rickets; Joint dislocation; Metaphyseal irregularity; Osteoarthritis; Osteomalacia; Phenotypic variability; Rachitic rosary; Renal phosphate wasting; Renal tubular dysfunction; Rickets; Short stature; Shortening of the talar neck; Spinal canal stenosis; Spinal cord compression; Tibial bowing; Tooth abscess; Trapezoidal distal femoral condyles; X-linked dominant inheritance
PIEZO116q24.3100%gene with protein product611184FAM38AAscites; Autosomal dominant inheritance; Autosomal recessive inheritance; Cupped ear; Exercise-induced hemolysis; Facial edema; Gastroesophageal reflux; Generalized edema; Genital edema; Global developmental delay; Hearing impairment; Hydrocele testis; Hypothyroidism; Increased red cell hemolysis by shear stress; Lymphedema; Nonimmune hydrops fetalis; Pectus excavatum; Periorbital edema; Phenotypic variability; Polyhydramnios; Reticulocytosis; Scoliosis; Splenomegaly; Varicose veins; Webbed neckHemolytic Anemia
PLA2G622q13.1100%gene with protein product603604Abnormal pyramidal signs; Abnormality of metabolism/homeostasis; Abnormality of visual evoked potentials; Aggressive behavior; Ataxia; Autosomal recessive inheritance; Babinski sign; Bradykinesia; Cachexia; Cerebellar atrophy; Cerebral atrophy; Childhood onset; Chorea; Clumsiness; Delayed speech and language development; Depressivity; Developmental regression; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Elevated serum creatine phosphokinase; EMG: chronic denervation signs; Emotional lability; Feeding difficulties; Frontal bossing; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized hypotonia; Generalized muscle weakness; Gliosis; Global brain atrophy; Global developmental delay; Hearing impairment; Hyperactivity; Hyperreflexia; Impaired smooth pursuit; Impulsivity; Infantile onset; Intellectual disability; Intention tremor; Mental deterioration; Micrognathia; Morphological abnormality of the pyramidal tract; Muscular hypotonia; Neurodegeneration; Neurofibrillary tangles; Neuronal loss in central nervous system; Nystagmus; Optic atrophy; Parkinsonism; Personality changes; Phenotypic variability; Postural instability; Progressive; Prominent forehead; Rapidly progressive; Rigidity; Seizures; Short attention span; Short nose; Spastic tetraplegia; Spasticity; Strabismus; Supranuclear gaze palsy; Talipes calcaneovalgus; Tremor; Unsteady gait; Visual impairment; Visual loss
PLP1Xq22.299.97%gene with protein product300401SPG2, PLPAbnormal pyramidal signs; Abnormality of extrapyramidal motor function; Ataxia; Babinski sign; Bowel incontinence; Cerebral dysmyelination; Choreoathetosis; Degeneration of the lateral corticospinal tracts; Delayed speech and language development; Dysarthria; Dysmetria; Dysphagia; Dystonia; Failure to thrive; Flexion contracture; Generalized hypotonia; Global developmental delay; Head titubation; Hyperreflexia; Infantile onset; Intellectual disability; Juvenile onset; Lower limb muscle weakness; Lower limb spasticity; Microcephaly; Muscle weakness; Muscular hypotonia; Nystagmus; Optic atrophy; Pes cavus; Phenotypic variability; Progressive spastic quadriplegia; Psychomotor deterioration; Reduction of oligodendroglia; Rotary nystagmus; Scanning speech; Short stature; Skeletal muscle atrophy; Slow progression; Spastic gait; Spastic paraparesis; Spastic paraplegia; Spastic/hyperactive bladder; Spinocerebellar tract degeneration; Sudanophilic leukodystrophy; Tremor; X-linked recessive inheritance
PNPLA619p13.299.99%gene with protein product603197Abnormal electroretinogram; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the antitragus; Abnormality of the hand; Abnormality of the hypothalamus-pituitary axis; Areflexia; Ataxia; Atrophy of the spinal cord; Autosomal recessive inheritance; Babinski sign; Central heterochromia; Cerebellar atrophy; Chorioretinal dystrophy; Cryptorchidism; Decreased fertility; Delayed puberty; Distal amyotrophy; Distal lower limb muscle weakness; Distal muscle weakness; Finger syndactyly; Gait disturbance; Growth hormone deficiency; Gynecomastia; Hand polydactyly; Hemiplegia/hemiparesis; Hyperreflexia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hyporeflexia; Intellectual disability; Intention tremor; Juvenile onset; Long eyebrows; Long eyelashes; Micropenis; Muscular hypotonia; Neurological speech impairment; Nystagmus; Obesity; Optic atrophy; Peripheral axonal neuropathy; Phenotypic variability; Photophobia; Pigmentary retinopathy; Progressive; Progressive spastic paraplegia; Progressive visual loss; Renal insufficiency; Retinal dystrophy; Scanning speech; Scrotal hypoplasia; Sensorineural hearing impairment; Severe short stature; Short stature; Small for gestational age; Spastic paraplegia; Spinocerebellar atrophyObesity
POLG15q26.1100%gene with protein product1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
POLG15q26.1100%gene with protein product1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
POLG15q26.1100%gene with protein product1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
POLR3A10q22.399.98%gene with protein product614258Abnormal upper motor neuron morphology; Ataxia; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; CNS hypomyelination; Delayed puberty; Drooling; Dysarthria; Dysmetria; Dysphagia; Dystonia; Global developmental delay; Hypergonadotropic hypogonadism; Hyperreflexia; Hypodontia; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Leukodystrophy; Myopia; Oligodontia; Phenotypic variability; Postural tremor; Progressive; Short stature; Spasticity
POLR3B12q23.399.99%gene with protein product614366Abnormal upper motor neuron morphology; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; Cerebral hypomyelination; CNS hypomyelination; Cryptorchidism; Decreased testicular size; Delayed eruption of teeth; Delayed puberty; Drooling; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Global developmental delay; Gynecomastia; Horizontal nystagmus; Hypergonadotropic hypogonadism; Hyperreflexia; Hypodontia; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Impaired horizontal smooth pursuit; Intellectual disability, mild; Intention tremor; Leukodystrophy; Micropenis; Myopia; Oligodontia; Phenotypic variability; Postural tremor; Primary amenorrhea; Progressive; Short stature; Sparse axillary hair; Sparse pubic hair; Spasticity
POLR3B12q23.399.99%gene with protein product614366Abnormal upper motor neuron morphology; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; Cerebral hypomyelination; CNS hypomyelination; Cryptorchidism; Decreased testicular size; Delayed eruption of teeth; Delayed puberty; Drooling; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Global developmental delay; Gynecomastia; Horizontal nystagmus; Hypergonadotropic hypogonadism; Hyperreflexia; Hypodontia; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Impaired horizontal smooth pursuit; Intellectual disability, mild; Intention tremor; Leukodystrophy; Micropenis; Myopia; Oligodontia; Phenotypic variability; Postural tremor; Primary amenorrhea; Progressive; Short stature; Sparse axillary hair; Sparse pubic hair; Spasticity
POMGNT11p34.198.2%gene with protein product606822MEBAbnormal aldolase level; Abnormal electroretinogram; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Anteverted nares; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Coloboma; Conductive hearing impairment; Congenital muscular dystrophy; Congenital myopia; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased light- and dark-adapted electroretinogram amplitude; Difficulty climbing stairs; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Enlarged flash visual evoked potentials; Everted lower lip vermilion; Fatigue; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperinsulinemia; Hyperlordosis; Hypertonia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the pons; Hypoplasia of the retina; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Keratoconus; Lissencephaly; Macrocephaly; Macrogyria; Malar flattening; Megalocornea; Metatarsus valgus; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myoclonus; Myopathy; Myopia; Neurological speech impairment; Nyctalopia; Nystagmus; Obesity; Opacification of the corneal stroma; Ophthalmoplegia; Optic atrophy; Pachygyria; Pallor; Phenotypic variability; Photophobia; Polymicrogyria; Progressive; Progressive night blindness; Reduced visual acuity; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short nasal bridge; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Spasticity; Specific learning disability; Strabismus; Type II lissencephaly; Uncontrolled eye movements; Undetectable electroretinogram; Ventriculomegaly; Visual impairment; Wide nasal bridgeMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
POMT19q34.1399.8%gene with protein product607423Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Absent speech; 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; Cataract; 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; Difficulty climbing stairs; Difficulty walking; Easy fatigability; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Enlarged cisterna magna; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplastic male external genitalia; Hyporeflexia; Inability to walk; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Limb-girdle muscle weakness; Lissencephaly; Lumbar hyperlordosis; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Renal dysplasia; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Slow progression; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Type II lissencephaly; Variable expressivity; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
POMT214q24.398.02%gene with protein product607439Abnormal 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; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Cerebral cortical atrophy; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hip dislocation; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Micropenis; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Open mouth; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal muscle weakness; 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; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
POMT214q24.398.02%gene with protein product607439Abnormal 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; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Cerebral cortical atrophy; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hip dislocation; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Micropenis; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Open mouth; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal muscle weakness; 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; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
PPARG3p25.2100%gene with protein product601487Abnormality of skin pigmentation; Abnormality of the face; Abnormality of the musculature; Abnormality of the neck; Acanthosis nigricans; Accelerated skeletal maturation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone cyst; Broad foot; Cirrhosis; Decreased circulating high-density lipoprotein levels; Decreased resting energy expenditure; Diabetes mellitus; Generalized hirsutism; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hirsutism; Hyperglycemia; Hyperhidrosis; Hyperinsulinemia; Hypertension; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Hyperuricemia; Increased carotid artery intimal medial thickness; Insulin resistance; Insulin-resistant diabetes mellitus; Intellectual disability; Large hands; Lipoatrophy; Lipodystrophy; Loss of gluteal subcutaneous adipose tissue; Loss of subcutaneous adipose tissue in limbs; Mandibular prognathia; Marked muscular hypertrophy; Maternal diabetes; Obesity; Oligomenorrhea; Phenotypic variability; Polygenic inheritance; Precocious puberty; Preeclampsia; Primary amenorrhea; Prominent superficial veins; Prominent supraorbital ridges; Reduced subcutaneous adipose tissue; Secondary amenorrhea; Skeletal muscle hypertrophy; Thin skin; Xanthomatosis
PPP1R15B1q32.1100%gene with protein product613257Abnormal vertebral morphology; Autosomal recessive inheritance; Brisk reflexes; Delayed puberty; Dysarthria; Fine hair; Gait ataxia; Hearing impairment; High pitched voice; Intellectual disability, severe; Intrauterine growth retardation; Kinetic tremor; Kyphoscoliosis; Microcephaly; Oligodontia; Pectus excavatum; Phenotypic variability; Recurrent hypoglycemia; Seizures; Short stature; Small for gestational age; Sparse hair; Spasticity
PRNP20p13100%gene with protein product176640PRIP, GSS, CJDAbdominal symptom; Adult onset; Aggressive behavior; Akinetic mutism; Anxiety; Apathy; Aphasia; Apnea; Apraxia; Areflexia; Astrocytosis; Ataxia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Babinski sign; Basal ganglia gliosis; Bradykinesia; Central nervous system degeneration; Cerebellar atrophy; Childhood onset; Chorea; Clumsiness; Confusion; Constipation; Deficit in phonologic short-term memory; Delusions; Dementia; Depressivity; Diffuse spongiform leukoencephalopathy; Diplopia; Dysarthria; Dysautonomia; Dysmetria; Dysphagia; EEG with persistent abnormal rhythmic activity; Emotional lability; Encephalopathy; Extrapyramidal muscular rigidity; Fever; Focal T2 hyperintense basal ganglia lesion; Gait ataxia; Gliosis; Global brain atrophy; Hallucinations; Hemiparesis; Hyperhidrosis; Hyperreflexia; Hypersomnia; Impaired smooth pursuit; Incoordination; Insomnia; Irritability; Jaw pain; Limb ataxia; Loss of facial expression; Lower limb muscle weakness; Memory impairment; Muscle weakness; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perseveration; Personality changes; Phenotypic variability; Poor visual behavior for age; Progressive cerebellar ataxia; Progressive extrapyramidal muscular rigidity; Progressive forgetfulness; Psychosis; Rapidly progressive; Restlessness; Rigidity; Seizures; Senile plaques; Short attention span; Sleep disturbance; Slurred speech; Spastic dysarthria; Spastic hemiparesis; Spasticity; Specific learning disability; Stroke-like episode; Supranuclear gaze palsy; Tremor; Truncal ataxia; Unsteady gait; Urinary retention; Visual impairment; Weight loss
PRODH22q11.2199.99%gene with protein product606810Aggressive behavior; Autosomal recessive inheritance; EEG abnormality; Generalized hypotonia; Global developmental delay; Hydroxyprolinuria; Hyperactivity; Hyperglycinuria; Hyperprolinemia; Intellectual disability; Nephropathy; Phenotypic variability; Prolinuria; Proteinuria; Status epilepticus; StereotypyPalmoplantar keratoderma plus congenital ichthyosis
PRRX11q24.2100%gene with protein product167420PMX1Abnormality of the cranial nerves; Abnormality of the eye; Absent nares; Agenesis of corpus callosum; Aglossia; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Autosomal recessive inheritance; Cleft palate; Conductive hearing impairment; Cyclopia; Downslanted palpebral fissures; Holoprosencephaly; Hypoplasia of penis; Hypoplasia of the epiglottis; Laryngeal hypoplasia; Low-set, posteriorly rotated ears; Mandibular aplasia; Microglossia; Micrognathia; Narrow internal auditory canal; Narrow mouth; Phenotypic variability; Polyhydramnios; Respiratory distress; Situs inversus totalis; Synotia; TracheomalaciaHeterotaxy
PUF608q24.399.99%gene with protein product604819Abnormal cardiac septum morphology; Autosomal dominant inheritance; Cerebral atrophy; Clinodactyly; Coloboma; Congenital onset; Feeding difficulties; Global developmental delay; Hemivertebrae; Hip dislocation; Long philtrum; Microcephaly; Narrow forehead; Phenotypic variability; Renal agenesis; Renal cyst; Renal hypoplasia; Scoliosis; Short 5th finger; Short neck; Short nose; Short stature; Thin upper lip vermilion; Vertebral fusion; Wide nasal bridge
RAD218q24.1199.96%gene with protein product606462Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Exostoses; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phenotypic variability; Phthisis bulbi; Premature birth; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Smooth philtrum; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Vesicoureteral reflux; Wide nasal bridge; Widely spaced teeth
RPGRIP1L16q12.296.43%gene with protein product610937Abnormal chorioretinal morphology; Abnormality of the corpus callosum; Abnormality of the urinary system; Anencephaly; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Bowing of the long bones; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Cleft upper lip; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Elevated hepatic transaminases; Encephalocele; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Hypoplasia of the brainstem; 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; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Ptosis; Renal cyst; Renal insufficiency; Retinal dystrophy; Round face; Sclerocornea; Scoliosis; Sloping forehead; Spasticity; Splenomegaly; Talipes; Visual impairment; Wide mouthHeterotaxy
RYR119q13.299.99%gene with protein product180901MHS, MHS1, CCOAbnormality of the coagulation cascade; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Centrally nucleated skeletal muscle fibers; Congenital hip dislocation; Congenital onset; Decreased fetal movement; Difficulty running; Dilated cardiomyopathy; Dysphagia; Elevated serum creatine phosphokinase; Exercise-induced myalgia; External ophthalmoplegia; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fever; Flexion contracture; Generalized muscle weakness; Heterogeneous; High palate; Hydrops fetalis; Hyperkalemia; Hyperphosphatemia; Hypotension; Increased connective tissue; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Kyphoscoliosis; Long face; Lumbar hyperlordosis; Malignant hyperthermia; Mixed respiratory and metabolic acidosis; Motor delay; Muscular dystrophy; Muscular hypotonia; Myoglobinuria; Myopathic facies; Myopathy; Narrow face; Nemaline bodies; Neonatal hypotonia; Neonatal onset; Nonprogressive; Pes planus; Phenotypic variability; Polyhydramnios; Proximal muscle weakness; Ptosis; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rhabdomyolysis; Rigidity; Scoliosis; Skeletal muscle atrophy; Slow progression; Tachycardia; Type 1 and type 2 muscle fiber minicore regions; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Weak cryRhabdomyolysis
RYR119q13.299.99%gene with protein product180901MHS, MHS1, CCOAbnormality of the coagulation cascade; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Centrally nucleated skeletal muscle fibers; Congenital hip dislocation; Congenital onset; Decreased fetal movement; Difficulty running; Dilated cardiomyopathy; Dysphagia; Elevated serum creatine phosphokinase; Exercise-induced myalgia; External ophthalmoplegia; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fever; Flexion contracture; Generalized muscle weakness; Heterogeneous; High palate; Hydrops fetalis; Hyperkalemia; Hyperphosphatemia; Hypotension; Increased connective tissue; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Kyphoscoliosis; Long face; Lumbar hyperlordosis; Malignant hyperthermia; Mixed respiratory and metabolic acidosis; Motor delay; Muscular dystrophy; Muscular hypotonia; Myoglobinuria; Myopathic facies; Myopathy; Narrow face; Nemaline bodies; Neonatal hypotonia; Neonatal onset; Nonprogressive; Pes planus; Phenotypic variability; Polyhydramnios; Proximal muscle weakness; Ptosis; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rhabdomyolysis; Rigidity; Scoliosis; Skeletal muscle atrophy; Slow progression; Tachycardia; Type 1 and type 2 muscle fiber minicore regions; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Weak cryRhabdomyolysis
SALL420q13.2100%gene with protein product607343Abnormal dermatoglyphics; Abnormality of the nasopharynx; Absent radius; Absent thumb; Aganglionic megacolon; Anal atresia; Anal stenosis; Aplasia of metacarpal bones; Atrial septal defect; Autosomal dominant inheritance; Bladder diverticulum; Broad hallux phalanx; Carpal bone hypoplasia; Carpal synostosis; Cataract; Choanal atresia; Choanal stenosis; Conductive hearing impairment; Congenital strabismus; Crossed fused renal ectopia; Duane anomaly; Epicanthus; External ophthalmoplegia; Facial asymmetry; Facial palsy; Fused cervical vertebrae; Hearing impairment; Horseshoe kidney; Hydronephrosis; Hypertelorism; Hypoplasia of deltoid muscle; Hypoplasia of the radius; Hypoplasia of the ulna; Impaired convergence; Impaired ocular abduction; Impaired ocular adduction; Intestinal malrotation; Iris coloboma; Joint stiffness; Leukocytosis; Limited elbow movement; Limited interphalangeal movement; Limited wrist movement; Microphthalmia; Optic disc hypoplasia; Optic nerve coloboma; Palpebral fissure narrowing on adduction; Pectoralis hypoplasia; Pectoralis major hypoplasia; Pes planus; Phenotypic variability; Preaxial hand polydactyly; Preaxial polydactyly; Radial club hand; Radial deviation of the hand; Radioulnar synostosis; Rectovaginal fistula; Renal agenesis; Renal hypoplasia; Renal hypoplasia/aplasia; Renal malrotation; Retinal coloboma; Sandal gap; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short 1st metacarpal; Short distal phalanx of the thumb; Short hallux; Short humerus; Short palpebral fissure; Short thumb; Small thenar eminence; Spina bifida occulta; Strabismus; Syndactyly; Synostosis of carpal bones; Thrombocytopenia; Triphalangeal thumb; Upper limb muscle hypoplasia; Ventricular septal defect; Vesicoureteral reflux; Visual impairmentVACTERL Association
SALL420q13.2100%gene with protein product607343Abnormal dermatoglyphics; Abnormality of the nasopharynx; Absent radius; Absent thumb; Aganglionic megacolon; Anal atresia; Anal stenosis; Aplasia of metacarpal bones; Atrial septal defect; Autosomal dominant inheritance; Bladder diverticulum; Broad hallux phalanx; Carpal bone hypoplasia; Carpal synostosis; Cataract; Choanal atresia; Choanal stenosis; Conductive hearing impairment; Congenital strabismus; Crossed fused renal ectopia; Duane anomaly; Epicanthus; External ophthalmoplegia; Facial asymmetry; Facial palsy; Fused cervical vertebrae; Hearing impairment; Horseshoe kidney; Hydronephrosis; Hypertelorism; Hypoplasia of deltoid muscle; Hypoplasia of the radius; Hypoplasia of the ulna; Impaired convergence; Impaired ocular abduction; Impaired ocular adduction; Intestinal malrotation; Iris coloboma; Joint stiffness; Leukocytosis; Limited elbow movement; Limited interphalangeal movement; Limited wrist movement; Microphthalmia; Optic disc hypoplasia; Optic nerve coloboma; Palpebral fissure narrowing on adduction; Pectoralis hypoplasia; Pectoralis major hypoplasia; Pes planus; Phenotypic variability; Preaxial hand polydactyly; Preaxial polydactyly; Radial club hand; Radial deviation of the hand; Radioulnar synostosis; Rectovaginal fistula; Renal agenesis; Renal hypoplasia; Renal hypoplasia/aplasia; Renal malrotation; Retinal coloboma; Sandal gap; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short 1st metacarpal; Short distal phalanx of the thumb; Short hallux; Short humerus; Short palpebral fissure; Short thumb; Small thenar eminence; Spina bifida occulta; Strabismus; Syndactyly; Synostosis of carpal bones; Thrombocytopenia; Triphalangeal thumb; Upper limb muscle hypoplasia; Ventricular septal defect; Vesicoureteral reflux; Visual impairmentVACTERL Association
SCN4A17q23.3100%gene with protein product603967HYKPPApneic episodes in infancy; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral palsy; Chest pain; Dysphagia; Easy fatigability; Elevated serum creatine phosphokinase; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; External ophthalmoplegia; Fasciculations; Fatigable weakness; Feeding difficulties; Gait disturbance; Handgrip myotonia; Hyperkalemia; Hypertonia; Hypokalemia; Incomplete penetrance; Increased intramyocellular lipid droplets; Infantile onset; Inspiratory stridor; Laryngospasm; Mildly elevated creatine phosphokinase; Motor delay; Muscle cramps; Muscle stiffness; Muscle weakness; Myalgia; Myopathy; Myotonia; Paradoxical myotonia; Percussion myotonia; Periodic hyperkalemic paralysis; Periodic hypokalemic paresis; Periodic paralysis; Phenotypic variability; Postprandial hyperglycemia; Ptosis; Reduced tendon reflexes; Skeletal muscle hypertrophy; Stridor; Variable expressivity
SCN4A17q23.3100%gene with protein product603967HYKPPApneic episodes in infancy; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral palsy; Chest pain; Dysphagia; Easy fatigability; Elevated serum creatine phosphokinase; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; External ophthalmoplegia; Fasciculations; Fatigable weakness; Feeding difficulties; Gait disturbance; Handgrip myotonia; Hyperkalemia; Hypertonia; Hypokalemia; Incomplete penetrance; Increased intramyocellular lipid droplets; Infantile onset; Inspiratory stridor; Laryngospasm; Mildly elevated creatine phosphokinase; Motor delay; Muscle cramps; Muscle stiffness; Muscle weakness; Myalgia; Myopathy; Myotonia; Paradoxical myotonia; Percussion myotonia; Periodic hyperkalemic paralysis; Periodic hypokalemic paresis; Periodic paralysis; Phenotypic variability; Postprandial hyperglycemia; Ptosis; Reduced tendon reflexes; Skeletal muscle hypertrophy; Stridor; Variable expressivity
SCN4A17q23.3100%gene with protein product603967HYKPPApneic episodes in infancy; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral palsy; Chest pain; Dysphagia; Easy fatigability; Elevated serum creatine phosphokinase; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; External ophthalmoplegia; Fasciculations; Fatigable weakness; Feeding difficulties; Gait disturbance; Handgrip myotonia; Hyperkalemia; Hypertonia; Hypokalemia; Incomplete penetrance; Increased intramyocellular lipid droplets; Infantile onset; Inspiratory stridor; Laryngospasm; Mildly elevated creatine phosphokinase; Motor delay; Muscle cramps; Muscle stiffness; Muscle weakness; Myalgia; Myopathy; Myotonia; Paradoxical myotonia; Percussion myotonia; Periodic hyperkalemic paralysis; Periodic hypokalemic paresis; Periodic paralysis; Phenotypic variability; Postprandial hyperglycemia; Ptosis; Reduced tendon reflexes; Skeletal muscle hypertrophy; Stridor; Variable expressivity
SDHA5p15.33100%gene with protein product600857SDH2Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Adrenal pheochromocytoma; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebral hemorrhage; Chest pain; CNS demyelination; Cognitive impairment; Constipation; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dysarthria; Dysphagia; Dysphonia; Dystonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Emotional lability; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Exercise intolerance; Extraadrenal pheochromocytoma; Failure to thrive; Fatigue; Flexion contracture; Flushing; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hypotonia; Gliosis; Global developmental delay; Glomerulosclerosis; Hepatocellular necrosis; Heterogeneous; Hypercalcemia; Hyperreflexia; Hypertensive retinopathy; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Intestinal obstruction; Lactic acidosis; Left ventricular noncompaction; Leukoencephalopathy; Mitochondrial inheritance; Muscle weakness; Myoclonus; Nausea; Nausea and vomiting; Neonatal hypotonia; Neoplasm of the stomach; Nystagmus; Ophthalmoplegia; Optic atrophy; Palpitations; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Phenotypic variability; Pigmentary retinopathy; Positive regitine blocking test; Progressive; Progressive leukoencephalopathy; Proteinuria; Ptosis; Pulsatile tinnitus; Ragged-red muscle fibers; Recurrent paroxysmal headache; Respiratory failure; Sarcoma; Seizures; Sensorineural hearing impairment; Short stature; Sinus tachycardia; Spasticity; Strabismus; Stress/infection-induced lactic acidosis; Visual impairment; Weight loss
SDHA5p15.33100%gene with protein product600857SDH2Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Adrenal pheochromocytoma; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebral hemorrhage; Chest pain; CNS demyelination; Cognitive impairment; Constipation; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dysarthria; Dysphagia; Dysphonia; Dystonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Emotional lability; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Exercise intolerance; Extraadrenal pheochromocytoma; Failure to thrive; Fatigue; Flexion contracture; Flushing; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hypotonia; Gliosis; Global developmental delay; Glomerulosclerosis; Hepatocellular necrosis; Heterogeneous; Hypercalcemia; Hyperreflexia; Hypertensive retinopathy; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Intestinal obstruction; Lactic acidosis; Left ventricular noncompaction; Leukoencephalopathy; Mitochondrial inheritance; Muscle weakness; Myoclonus; Nausea; Nausea and vomiting; Neonatal hypotonia; Neoplasm of the stomach; Nystagmus; Ophthalmoplegia; Optic atrophy; Palpitations; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Phenotypic variability; Pigmentary retinopathy; Positive regitine blocking test; Progressive; Progressive leukoencephalopathy; Proteinuria; Ptosis; Pulsatile tinnitus; Ragged-red muscle fibers; Recurrent paroxysmal headache; Respiratory failure; Sarcoma; Seizures; Sensorineural hearing impairment; Short stature; Sinus tachycardia; Spasticity; Strabismus; Stress/infection-induced lactic acidosis; Visual impairment; Weight loss
SDHAF119q13.12100%gene with protein product612848Abnormal mitochondria in muscle tissue; Ataxia; Autosomal recessive inheritance; Babinski sign; Cognitive impairment; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dystonia; Exercise intolerance; Flexion contracture; Hyperreflexia; Hypertrophic cardiomyopathy; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Left ventricular noncompaction; Leukoencephalopathy; Muscle weakness; Myoclonus; Neonatal hypotonia; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive leukoencephalopathy; Ptosis; Ragged-red muscle fibers; Seizures; Short stature; Spasticity; Stress/infection-induced lactic acidosis; Visual impairment
SDHD11q23.199.87%gene with protein product602690PGL, PGL1Abdominal pain; Abnormal mitochondria in muscle tissue; Abnormality of mitochondrial metabolism; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Breast carcinoma; Cafe-au-lait spot; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Conductive hearing impairment; Congenital cataract; Congestive heart failure; Conjunctival hamartoma; Cranial nerve paralysis; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dysphagia; Dysphonia; Dystonia; Elevated circulating catecholamine level; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Erythematous plaque; Exercise intolerance; Extraadrenal pheochromocytoma; Fatigue; Flexion contracture; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Glomus tympanicum paraganglioma; Goiter; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hoarse voice; Hypercalcemia; Hyperhidrosis; Hyperreflexia; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Hypertrophic cardiomyopathy; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Intestinal carcinoid; Intestinal obstruction; Left ventricular noncompaction; Leukoencephalopathy; Lipoma; Loss of voice; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Muscle weakness; Myoclonus; Nausea; Neonatal hypotonia; Neoplasm; Neoplasm of the gastrointestinal tract; Neoplasm of the thyroid gland; Night sweats; Nystagmus; Ophthalmoplegia; Optic atrophy; Palmoplantar keratoderma; Palpitations; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Phenotypic variability; Pheochromocytoma; Pigmentary retinopathy; Positive regitine blocking test; Progressive leukoencephalopathy; Proteinuria; Protracted diarrhea; Ptosis; Pulsatile tinnitus; Ragged-red muscle fibers; Recurrent paroxysmal headache; Renal artery stenosis; Renal cell carcinoma; Seizures; Short stature; Sinus tachycardia; Small intestine carcinoid; Spasticity; Stress/infection-induced lactic acidosis; Subcutaneous nodule; Tachycardia; Tinnitus; Uterine leiomyoma; Vagal paraganglioma; Visual impairment; Vocal cord paralysis; Weight loss
SEMA3E7q21.11100%gene with protein product608166SEMAHAbnormal aortic valve morphology; Abnormal cardiac septum morphology; Abnormality of female internal genitalia; Abnormality of the soft palate; Anophthalmia; Anosmia; Anterior hypopituitarism; Aortic arch aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thymus; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid scrotum; Choanal atresia; Chorioretinal coloboma; Cleft palate; Cleft upper lip; Coloboma; Cryptorchidism; Decreased testicular size; Delayed eruption of teeth; Delayed puberty; Depressed nasal bridge; Dimple chin; Double outlet right ventricle; Downslanted palpebral fissures; Duodenal atresia; Dysphagia; Esophageal atresia; External ear malformation; Facial asymmetry; Facial palsy; Feeding difficulties; Feeding difficulties in infancy; Gastroesophageal reflux; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hearing impairment; Horseshoe kidney; Hydronephrosis; Hypocalcemia; Hypogonadotrophic hypogonadism; Hypoplasia of the semicircular canal; Hypothyroidism; Intellectual disability; Interrupted aortic arch; Iris coloboma; Labial hypoplasia; Low-set, posteriorly rotated ears; Lymphopenia; Malar flattening; Micropenis; Microphthalmia; Muscular hypotonia; Narrow face; Narrow mouth; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Overfolded helix; Parathyroid hypoplasia; Patent ductus arteriosus; Phenotypic variability; Polyhydramnios; Posterior choanal atresia; Postnatal growth retardation; Primary amenorrhea; Ptosis; Pulmonic stenosis; Short stature; Sparse axillary hair; Sparse pubic hair; Sporadic; Square face; Strabismus; Tetralogy of Fallot; Umbilical hernia; Ventricular septal defect
SERPINA614q32.13100%gene with protein product122500CBGAbnormality of metabolism/homeostasis; Autosomal dominant inheritance; Autosomal recessive inheritance; Hypertension; Hypotension; Increased muscle fatiguability; Phenotypic variability
SETD23p21.3199.97%gene with protein product612778Abnormality of immune system physiology; Accelerated skeletal maturation; Advanced eruption of teeth; Advanced ossification of carpal bones; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Arnold-Chiari malformation; Autistic behavior; Autosomal dominant inheritance; Conductive hearing impairment; Delayed speech and language development; Depressed nasal ridge; Dolichocephaly; Downslanted palpebral fissures; Feeding difficulties in infancy; Frontal bossing; Generalized hypotonia; Global developmental delay; High anterior hairline; High forehead; High palate; Hirsutism; Hypertelorism; Hypoglycemia; Intellectual disability; Long face; Long foot; Long nose; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Menstrual irregularities; Muscular hypotonia; Obesity; Overgrowth; Phenotypic variability; Pointed chin; Polycystic ovaries; Polyphagia; Precocious puberty; Prominent forehead; Recurrent otitis media; Seizures; Short stature; Shyness; Slurred speech; Syringomyelia; Tall stature; VentriculomegalyObesity
SH3TC25q3299.99%gene with protein product608206Abnormal pupillary light reflex; Autosomal dominant inheritance; Autosomal recessive inheritance; Constrictive median neuropathy; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Difficulty walking; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Facial palsy; Hearing impairment; Heterogeneous; Mononeuropathy; Motor delay; Nystagmus; Peripheral axonal degeneration; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Polyneuropathy; Prolonged brainstem auditory evoked potentials; Scoliosis; Segmental peripheral demyelination; Tongue atrophy; Tongue fasciculations; Upper limb muscle weakness
SIM16q16.3100%gene with protein product603128Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Decreased resting energy expenditure; Delayed speech and language development; Dysautonomia; EEG abnormality; Epicanthus; Full cheeks; Global developmental delay; Hyperinsulinemia; Low-set ears; Macrocephaly; Macrotia; Memory impairment; Microretrognathia; Muscular hypotonia; Obesity; Phenotypic variability; Polygenic inheritance; Polyphagia; Postural hypotension with compensatory tachycardia; Prominent nasal bridge; Round face; Strabismus; Vitamin B1 deficiencyObesity
SIN3A15q24.299.99%gene with protein product607776Abnormality of cardiovascular system morphology; Abnormality of the outer ear; Abnormality of the thorax; Abnormality of the voice; Aggressive behavior; Anisocoria; Anteverted nares; Arachnodactyly; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Brachydactyly; Cafe-au-lait spot; Clinodactyly; Congenital diaphragmatic hernia; Conspicuously happy disposition; Cryptorchidism; Cupped ear; Deeply set eye; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Dysplastic corpus callosum; Epicanthus; Facial asymmetry; Feeding difficulties in infancy; Fine hair; Flared nostrils; Gastrointestinal atresia; Generalized hypotonia; Global developmental delay; Growth delay; Growth hormone deficiency; Hearing impairment; High anterior hairline; High forehead; High palate; High, narrow palate; Highly arched eyebrow; Hyperactivity; Hypermetropia; Hypertelorism; Hypogonadism; Hypoplasia of the corpus callosum; Hypospadias; Immunodeficiency; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intestinal atresia; Intrauterine growth retardation; Iris coloboma; Joint hyperflexibility; Joint laxity; Long face; Long philtrum; Macrotia; Medial flaring of the eyebrow; Microcephaly; Micropenis; Microphallus; Microphthalmia; Microretrognathia; Muscular hypotonia; Narrow face; Narrow mouth; Nystagmus; Obesity; Open mouth; Phenotypic variability; Polyhydramnios; Prominent nasal bridge; Proximal placement of thumb; Radial deviation of finger; Recurrent infections; Scoliosis; Short nose; Short palm; Short stature; Short thumb; Single transverse palmar crease; Sleep disturbance; Small for gestational age; Smooth philtrum; Sparse and thin eyebrow; Sporadic; Strabismus; Thick lower lip vermilion; Thick nasal alae; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge; Wide nose; Widely spaced teeth
SLC25A1513q14.11100%gene with protein product603861ORNT1, HHHAbnormal pyramidal signs; Acute encephalopathy; Acute hepatitis; Autosomal recessive inheritance; Cerebral cortical atrophy; Clonus; Coma; Decreased liver function; Decreased nerve conduction velocity; Episodic vomiting; Failure to thrive; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperornithinemia; Hypopigmentation of the fundus; Impaired vibratory sensation; Intellectual disability; Lethargy; Morphological abnormality of the pyramidal tract; Phenotypic variability; Poor coordination; Protein avoidance; Spastic paraparesis; Specific learning disability
SLC29A310q22.199.86%gene with protein product612373Abnormality of dental enamel; Abnormality of the cranial nerves; Abnormality of the metaphysis; Aplasia/Hypoplasia of the skin; Autosomal recessive inheritance; Camptodactyly; Cerebral calcification; Cervical lymphadenopathy; Clinodactyly; Craniofacial hyperostosis; Decreased testicular size; Delayed eruption of teeth; Delayed puberty; Developmental regression; Diabetes mellitus; Elbow flexion contracture; Episcleritis; Fever; Growth hormone deficiency; Hallux valgus; Hearing impairment; Hepatomegaly; Hepatosplenomegaly; Histiocytosis; Hypergonadotropic hypogonadism; Hyperpigmentation of the skin; Hypertelorism; Hypertrichosis; Hypoplastic vertebral bodies; Increased bone mineral density; Intellectual disability; Irregular vertebral endplates; Lymphadenopathy; Macrocephaly; Nystagmus; Optic atrophy; Phenotypic variability; Platyspondyly; Proptosis; Recurrent fractures; Rough bone trabeculation; Scleroderma; Sensorineural hearing impairment; Short stature; Splenomegaly; Stiff skin; Ventricular septal defect
SLC7A714q11.2100%gene with protein product603593LPIAlveolar proteinosis; Aminoaciduria; Anemia; Autosomal recessive inheritance; Cutis laxa; Delayed skeletal maturation; Diarrhea; Failure to thrive; Fine hair; Generalized hypotonia; Hemophagocytosis; Hepatomegaly; Hyperammonemia; Hyperextensible skin; Increased serum ferritin; Infantile onset; Leukopenia; Malnutrition; Muscle weakness; Nausea; Oroticaciduria; Osteoporosis; Pancreatitis; Phenotypic variability; Pulmonary hemorrhage; Recurrent fractures; Respiratory insufficiency; Short stature; Skeletal muscle atrophy; Sparse hair; Splenomegaly; Stage 5 chronic kidney disease; Thrombocytopenia; Truncal obesity; VomitingAutoimmune Disorders
SMC310q25.299.98%gene with protein product606062CSPG6Abnormal cardiac septum morphology; Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Brachydactyly; Bulbous nose; Clinodactyly of the 5th finger; Cognitive impairment; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge;