Genes related to intellectual disability (Homo sapiens)


Gene symbol Disease related Location Phenotype
AAAS Achalasia-addisonianism-alacrimia syndrome 12q13.13 Global developmental delay ; Autosomal recessive inheritance ; Palmoplantar hyperkeratosis ; Hyperpigmentation of the skin ; Abnormality of visual evoked potentials ; Motor axonal neuropathy ; Hypocortisolemia ; Babinski sign ; Ataxia ; Anisocoria ; Short stature ; Achalasia ; Muscle weakness ; Adrenocorticotropin (ACTH) receptor (ACTHR) defect ; Intellectual disability ; Hyperreflexia ; Childhood onset ; Dysautonomia ; Hypoaldosteronism ; Microcephaly ; Orthostatic hypotension ; Progressive ; Dysarthria ; Alacrima ; Optic atrophy ;
AASS Hyperlysinemia 7q31.32 Muscular hypotonia ; Intellectual disability ; Abnormality of the genitourinary system ; Short attention span ; Seizures ; Ectopia lentis ; Cognitive impairment ; Delayed speech and language development ; Phenotypic variability ; Hyperlysinemia ; Hyperactivity ; Infantile onset ; Anemia ; Autosomal recessive inheritance ;
ABCC8 Diabetes mellitus, permanent neonatal, with neurologic features 11p15.1 Autosomal dominant inheritance ; Ptosis ; Ketoacidosis ; Hyperglycemia ; Long philtrum ; Motor delay ; Short nose ; Prominent metopic ridge ; Anteverted nares ; Muscle weakness ; Hypsarrhythmia ; Clinodactyly ; Abnormality of the immune system ; Intrauterine growth retardation ; Limb joint contracture ; Seizures ; Abnormality of the ear ; Global developmental delay ; Downturned corners of mouth ; Beta-cell dysfunction ; Muscular hypotonia of the trunk ; Small for gestational age ; Diabetes mellitus ; Radial deviation of finger ; Peripheral neuropathy ; Autosomal dominant inheritance ; Ptosis ; Ketoacidosis ; Hyperglycemia ; Long philtrum ; Motor delay ; Short nose ; Prominent metopic ridge ; Anteverted nares ; Muscle weakness ; Hypsarrhythmia ; Clinodactyly ; Abnormality of the immune system ; Intrauterine growth retardation ; Limb joint contracture ; Seizures ; Abnormality of the ear ; Global developmental delay ; Downturned corners of mouth ; Beta-cell dysfunction ; Muscular hypotonia of the trunk ; Small for gestational age ; Diabetes mellitus ; Radial deviation of finger ; Peripheral neuropathy ; Autosomal dominant inheritance ; Ptosis ; Ketoacidosis ; Hyperglycemia ; Long philtrum ; Motor delay ; Short nose ; Prominent metopic ridge ; Anteverted nares ; Muscle weakness ; Hypsarrhythmia ; Clinodactyly ; Abnormality of the immune system ; Intrauterine growth retardation ; Limb joint contracture ; Seizures ; Abnormality of the ear ; Global developmental delay ; Downturned corners of mouth ; Beta-cell dysfunction ; Muscular hypotonia of the trunk ; Small for gestational age ; Diabetes mellitus ; Radial deviation of finger ; Peripheral neuropathy ; Autosomal dominant inheritance ; Ptosis ; Ketoacidosis ; Hyperglycemia ; Long philtrum ; Motor delay ; Short nose ; Prominent metopic ridge ; Anteverted nares ; Muscle weakness ; Hypsarrhythmia ; Clinodactyly ; Abnormality of the immune system ; Intrauterine growth retardation ; Limb joint contracture ; Seizures ; Abnormality of the ear ; Global developmental delay ; Downturned corners of mouth ; Beta-cell dysfunction ; Muscular hypotonia of the trunk ; Small for gestational age ; Diabetes mellitus ; Radial deviation of finger ; Peripheral neuropathy ; Intellectual disability ;
ABCC8 Hyperinsulinemic hypoglycemia, familial, 1 11p15.1 Pancreatic islet-cell hyperplasia ; Autosomal dominant inheritance ; Hypoglycemic seizures ; Hyperinsulinemic hypoglycemia ; Hypoglycemic coma ; Heterogeneous ; Large for gestational age ; Intellectual disability ; Autosomal recessive inheritance ;
ABCC9 Cardiomyopathy, dilated, 1O (CMD1O) 12p12.1 Autosomal dominant inheritance ; Dilated cardiomyopathy ; Ventricular tachycardia ; Impaired myocardial contractility ; Intellectual disability ;
ABCD1 Adrenoleukodystrophy Xq28 Urinary bladder sphincter dysfunction ; Hyperpigmentation of the skin ; X-linked recessive inheritance ; Bowel incontinence ; Spastic paraplegia ; Abnormality of the skeletal system ; Abnormality of the cerebral white matter ; Hearing impairment ; Incoordination ; Elevated long chain fatty acids ; Blindness ; Loss of speech ; Primary adrenal insufficiency ; Truncal ataxia ; Seizures ; Impotence ; Visual loss ; Neurodegeneration ; Paraparesis ; Hypogonadism ; Polyneuropathy ; Bulbar palsy ; Slurred speech ; Urinary incontinence ; Progressive ; Limb ataxia ; Dementia ; Attention deficit hyperactivity disorder ; Psychosis ; Intellectual disability ;
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type (MAHCJ) 14q24.3 Muscular hypotonia ; Feeding difficulties ; Tachypnea ; Growth delay ; Abnormal posturing ; Hyperhomocystinemia ; Congenital onset ; Methylmalonic acidemia ; Inguinal hernia ; Anemia ; Homocystinuria ; Neutropenia ; Decreased adenosylcobalamin ; Lethargy ; Methylmalonic aciduria ; Autosomal recessive inheritance ; Thrombocytopenia ; Intellectual disability ;
ABHD5 Chanarin?Dorfman syndrome (CDS) 3p21.33 Muscle weakness ; Myopathy ; Congenital nonbullous ichthyosiform erythroderma ; Strabismus ; Everted lower lip vermilion ; Microtia ; Hepatomegaly ; Abnormality of blood and blood-forming tissues ; Sensorineural hearing impairment ; Intellectual disability ; Subcapsular cataract ; Hepatic steatosis ; Alopecia ; Nystagmus ; Ectropion ; Autosomal recessive inheritance ; Ataxia ;
ACAT1 Alpha-methylacetoacetic aciduria 1q25.2 Episodic ketoacidosis ; Autosomal recessive inheritance ; Dehydration ; Vomiting ; Intellectual disability ;
ACO2 Infantile cerebellar?retinal degeneration (ICRD) 22q13.2 Severe global developmental delay ; Ataxia ; Retinal dystrophy ; Demyelinating peripheral neuropathy ; Hypoplasia of the corpus callosum ; Autosomal recessive inheritance ; Seizures ; Intellectual disability, severe ; Cerebellar atrophy ; Cerebral cortical atrophy ; Optic atrophy ; Failure to thrive ; Nystagmus ; Athetosis ; Muscular hypotonia ; Strabismus ; Progressive microcephaly ; Areflexia ; Hyporeflexia ;
ACSF3 Combined malonic and methylmalonic aciduria (CMAMMA), 614265 16q24.3 ; Intellectual disability ;
ACSF3 Combined malonic and methylmalonic aciduria (CMAMMA) 16q24.3 ; Intellectual disability ;
ACSL4 Mental retardation, X-linked 63 Xq23 Intellectual disability ; XIntellectual disabilitylinked inheritance ;
ACSL4 Mental retardation, X-linked 63 Xq23 Intellectual disability ; X-linked inheritance ;
ACTB Baraitser-Winter syndrome 1 2q21.1 ; Intellectual disability ;
ACTB Dystonia, juvenile-onset (DJO) 2q21.1 ; Intellectual disability ;
ACTG1 Baraitser-Winter syndrome 2 (BRWS2) 17q25.3 ; Intellectual disability ;
ACVR1 Fibrodysplasia ossificans progressiva 2q24.1 Widely spaced teeth ; Small cervical vertebral bodies ; Ectopic ossification in tendon tissue ; Hallux valgus ; Ectopic ossification in ligament tissue ; Respiratory insufficiency ; Short 1st metacarpal ; Limitation of joint mobility ; Autosomal dominant inheritance ; Clinodactyly of the 5th finger ; Abnormality of the first metatarsal bone ; Ectopic ossification in muscle tissue ; Ectopic calcification ; Sensorineural hearing impairment ; Scoliosis ; Progressive cervical vertebral spine fusion ; Abnormality of the skin ; Short hallux ; Alopecia ; Spinal rigidity ; Broad femoral neck ; Respiratory failure ; Metaphyseal widening ; Conductive hearing impairment ; Intellectual disability ;
ACY1 Aminoacylase 1 deficiency (ACY1D) 3p21.2 ; Intellectual disability ;
ADAR Aicardi-Goutieres syndrome 6 (AGS6) 1q21.3 ; Intellectual disability ;
ADAT3 Mental retardation, autosomal recessive 36 19p13.3 Infantile onset ; Muscular hypotonia ; Esotropia ; Autosomal recessive inheritance ; Failure to thrive ; Intellectual disability ; Microcephaly ;
ADGRG1 Polymicrogyria, bilateral frontoparietal 16q21 Cerebral dysmyelination ; Hypoplasia of the brainstem ; Frontoparietal polymicrogyria ; Hypertonia ; Ankle clonus ; Global developmental delay ; Esotropia ; Cerebellar hypoplasia ; Nystagmus ; Exotropia ; Autosomal recessive inheritance ; Polymicrogyria, anterior to posterior gradient ; Truncal ataxia ; Seizures ; Hyperreflexia ; Intellectual disability ; Babinski sign ; Broad-based gait ;
ADNP Helsmoortel-van der Aa syndrome 20q13.13 Language impairment ; Cleft eyelid ; Thin upper lip vermilion ; Downslanted palpebral fissures ; Joint laxity ; Smooth philtrum ; Wide nasal bridge ; Strabismus ; Muscular hypotonia ; Prominent forehead ; Ptosis ; Visual impairment ; Intellectual disability ; Stereotypic behavior ; Short stature ; Autistic behavior ; Hyperactivity ; Small hand ; ObsessiveIntellectual disabilitycompulsive behavior ; Obesity ; Feeding difficulties ; Recurrent infections ; Global developmental delay ; Hypermetropia ; Short nose ;
ADSL Adenylosuccinase deficiency 22q13.1 Thin upper lip vermilion ; Nystagmus ; Gait ataxia ; Intellectual disability ; Brachycephaly ; Myoclonus ; Muscular hypotonia ; Cerebellar atrophy ; Cerebral atrophy ; Strabismus ; Prominent metopic ridge ; Severe global developmental delay ; Anteverted nares ; Smooth philtrum ; Delayed speech and language development ; Skeletal muscle atrophy ; Global developmental delay ; Autism ; Aggressive behavior ; Autosomal recessive inheritance ; Wide mouth ; Low-set ears ; Short nose ; Inappropriate laughter ; Brisk reflexes ; Hyperactivity ; Infantile onset ; Growth delay ; Self-mutilation ; Seizures ; CNS hypomyelination ; Cerebral hypomyelination ; Opisthotonus ; Inability to walk ; Long philtrum ; Poor eye contact ;
AFF2 Mental retardation, X-linked, FRAXE type Xq28 Impulsivity ; Abnormality of metabolism/homeostasis ; Delayed speech and language development ; XIntellectual disabilitylinked recessive inheritance ; Epicanthus ; Hyperactivity ; Agitation ; Aggressive behavior ; Intellectual disability ; ObsessiveIntellectual disabilitycompulsive behavior ; Prominent nasal bridge ;
AFF2 Mental retardation, X-linked, FRAXE type Xq28 Impulsivity ; Abnormality of metabolism/homeostasis ; Delayed speech and language development ; X-linked recessive inheritance ; Epicanthus ; Hyperactivity ; Agitation ; Aggressive behavior ; Intellectual disability ; Obsessive-compulsive behavior ; Prominent nasal bridge ;
AFF4 CHOPS syndrome 5q31.1 Laryngomalacia ; Coarse facial features ; Tracheal stenosis ; Thick hair ; Hypertelorism ; Abnormality of the cardiac septa ; Thick eyebrow ; Aspiration pneumonia ; Round face ; Global developmental delay ; Short stature ; Chronic lung disease ; Downturned corners of mouth ; Brachydactyly syndrome ; Gastroesophageal reflux ; Proptosis ; Obesity ; Short nose ; Intellectual disability ; Patent ductus arteriosus ; Cryptorchidism ; Long eyelashes ; Vesicoureteral reflux ;
AGA Aspartylglucosaminuria 4q34.3 Pectus carinatum ; Macroorchidism ; Depressed nasal bridge ; Scoliosis ; Dysostosis multiplex ; Abnormality of metabolism/homeostasis ; Platyspondyly ; Aspartylglucosaminuria ; Large face ; Recurrent respiratory infections ; Mandibular prognathia ; Macroglossia ; Delayed skeletal maturation ; Abnormality of movement ; Beaking of vertebral bodies ; Hypoplastic frontal sinuses ; Vacuolated lymphocytes ; Thick lower lip vermilion ; Autosomal recessive inheritance ; Hoarse voice ; Umbilical hernia ; Neurological speech impairment ; Hepatomegaly ; Gingival overgrowth ; Angiokeratoma corporis diffusum ; Diarrhea ; Abnormality of the tongue ; Anteverted nares ; Joint laxity ; Brachycephaly ; Cognitive impairment ; Microcephaly ; Craniofacial hyperostosis ; Wide mouth ; Spasticity ; Mitral regurgitation ; Hernia ; Neutropenia ; Pathologic fracture ; Broad face ; Seizures ; Hypertelorism ; Delayed speech and language development ; Acne ; Short stature ; Abnormality of the ulna ; Coarse facial features ; Abnormality of the outer ear ; Cataract ; Spondylolisthesis ; Cerebral atrophy ; Muscular hypotonia ; Carious teeth ; Short nose ; Abnormal cortical bone morphology ; Kyphosis ; Developmental regression ; Thickened calvaria ; Spondylolysis ; Intellectual disability ;
AGK Sengers syndrome 7q34 Myopia ; Strabismus ; Myopathy ; Infantile onset ; Autosomal recessive inheritance ; Increased serum lactate ; Glaucoma ; ExerciseIntellectual disabilityinduced lactic acidemia ; Fatigue ; Hypertrophic cardiomyopathy ; Growth delay ; Motor delay ; Variable expressivity ; Muscle weakness ; Respiratory insufficiency ; Congenital cataract ; Exercise intolerance ; Muscular hypotonia ; 3Intellectual disabilityMethylglutaconic aciduria ; Easy fatigability ; Nystagmus ; Mitochondrial myopathy ;
AGPAT2 Lipodystrophy, congenital generalized, type 1 9q34.3 Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) ; Tall stature ; Prominent umbilicus ; Large hands ; Acute pancreatitis ; Hypertriglyceridemia ; InsulinIntellectual disabilityresistant diabetes mellitus at puberty ; Generalized muscular appearance from birth ; Acanthosis nigricans ; Accelerated skeletal maturation ; Decreased fertility in females ; Autosomal recessive inheritance ; Splenomegaly ; Hirsutism ; Cystic angiomatosis of bone ; Long foot ; Decreased serum leptin ; Cirrhosis ; Labial hypertrophy ; Polycystic ovaries ; Hepatomegaly ; Hepatic steatosis ; Umbilical hernia ; Polyphagia ; Lipodystrophy ; Hyperinsulinemia ; Clitoromegaly ; Mandibular prognathia ;
AHCY Hypermethioninemia with deficiency of S?adenosylhomocysteine hydrolase 20q11.22 Hypermethioninemia ; Cardiomyopathy ; Global developmental delay ; Failure to thrive ; Abnormal facial shape ; Motor delay ; Autosomal recessive inheritance ; Intellectual disability ; Abnormality of the teeth ;
AHDC1 Xia-Gibbs syndrome 1p36.11-p35.3 Uplifted earlobe ; Global developmental delay ; Muscular hypotonia ; Low-set ears ; Obstructive sleep apnea ; Upslanted palpebral fissure ; Cortical gyral simplification ; Hypertelorism ; Intellectual disability ; Hypoplasia of the corpus callosum ; Esotropia ; Depressed nasal bridge ; Downslanted palpebral fissures ; Failure to thrive ; Laryngomalacia ; Micrognathia ; Delayed myelination ;
AHI1 Joubert syndrome?3 (JBTS3) 6q23.3 Nystagmus ; Anteverted nares ; Low-set ears ; Cerebellar vermis hypoplasia ; Motor delay ; Oculomotor apraxia ; Ptosis ; Wide nasal bridge ; Open mouth ; Muscular hypotonia ; Central apnea ; Enlarged fossa interpeduncularis ; Retinal dystrophy ; Ataxia ; Epicanthus ; Molar tooth sign on MRI ; Stage 5 chronic kidney disease ; Heterogeneous ; Nephronophthisis ; Elongated superior cerebellar peduncle ; Intellectual disability ; Autosomal recessive inheritance ; Episodic tachypnea ; Pigmentary retinopathy ; Highly arched eyebrow ; Abnormal electroretinogram ; Neonatal breathing dysregulation ; Visual impairment ;
AIFM1 Cowchock syndrome Xq26.1 Hearing impairment ; Muscle weakness ; Motor axonal neuropathy ; Reduced tendon reflexes ; Scoliosis ; Skeletal muscle atrophy ; XIntellectual disabilitylinked recessive inheritance ; Impaired pain sensation ; Cognitive impairment ; Sensory neuropathy ; Decreased nerve conduction velocity ; Intellectual disability ; Pes cavus ; Kyphosis ; Elevated serum creatine phosphokinase ;
AIMP1 Leukodystrophy, hypomyelinating, 3 4q24 Muscular hypotonia of the trunk ; Kyphoscoliosis ; Global developmental delay ; Coarse facial features ; Progressive ; Visual impairment ; Death in infancy ; Seizures ; Global brain atrophy ; Diffuse cerebral sclerosis ; Sudanophilic leukodystrophy ; Spastic paraparesis ; EEG abnormality ; Leukodystrophy ; Microcephaly ; Abnormal pyramidal signs ; Progressive flexion contractures ; Projectile vomiting ; Arthrogryposis multiplex congenita ; Autosomal recessive inheritance ; Corpus callosum atrophy ; Failure to thrive ; Premature birth ; Intellectual disability ;
AKT1 Proteus syndrome 14q32.33 Skeletal dysplasia ; Spinal canal stenosis ; Hemangioma ; Venous malformation ; Open mouth ; Visceral angiomatosis ; Lower limb asymmetry ; Hypertrophy of skin of soles ; Tall stature ; Dolichocephaly ; Bronchogenic cyst ; Deep venous thrombosis ; Sporadic ; Facial hyperostosis ; Macrocephaly ; Ptosis ; Hypertelorism ; Kyphoscoliosis ; Scoliosis ; Nevus ; Finger syndactyly ; Splenomegaly ; Abnormal form of the vertebral bodies ; Multiple lipomas ; Hemihypertrophy ; Melanocytic nevus ; Pulmonary embolism ; Kyphosis ; Macrodactyly of finger ; Spinal cord compression ; Depressed nasal bridge ; Asymmetry of the thorax ; Thin bony cortex ; Long face ; Arteriovenous malformation ; Hyperkeratosis ; Lymphangioma ; Cafe-au-lait spot ; Lipoma ; Decreased body weight ; Skeletal muscle atrophy ; Intellectual disability, moderate ; Mandibular hyperostosis ; Epibulbar dermoid ; Downslanted palpebral fissures ; Irregular hyperpigmentation ; Depigmentation/hyperpigmentation of skin ; Lymphedema ; Calvarial hyperostosis ;
AKT3 Macrocephaly?megalencephaly syndrome 1q43-q44 Intellectual disability ; Megalencephaly ; Optic atrophy ; Adrenal medullary hypoplasia ; Global developmental delay ; Dolichocephaly ; Broad forehead ; Mandibular prognathia ; Pointed chin ; Delayed speech and language development ; Coarse facial features ; Abnormality of the musculature ; Macrocephaly ;
ALDH18A1 Cutis laxa, autosomal recessive, type IIIA 10q24.1 Delayed skeletal maturation ; Brachycephaly ; Autosomal recessive inheritance ; Wide cranial sutures ; Wormian bones ; Congenital hip dislocation ; Cutis laxa ; Intrauterine growth retardation ; Severe short stature ; Failure to thrive ; Global developmental delay ; Corneal arcus ; Seizures ; Inguinal hernia ; Adducted thumb ; Prominent forehead ; Macrotia ; LowIntellectual disabilityset ears ; Thin skin ; Prominent superficial blood vessels ; Cataract ; Narrow nasal ridge ; Intellectual disability ; Umbilical hernia ; Large fontanelles ; Hyperreflexia ; Hypertelorism ; Cognitive impairment ; Joint hypermobility ; Scoliosis ; Frontal bossing ; Narrow mouth ; Muscular hypotonia ; Talipes equinovarus ; Pectus excavatum ; Hypotelorism ; Hyperextensible skin ; Athetosis ; Sporadic ; Sparse hair ; Myopia ; Strabismus ;
ALDH3A2 Sjogren-Larsson syndrome 17p11.2 Intellectual disability ; Photophobia ; Ichthyosis ; Spasticity ; Cognitive impairment ; Abnormality of retinal pigmentation ; Inflammatory abnormality of the eye ; Myopia ; Seizures ; Autosomal recessive inheritance ; Opacification of the corneal epithelium ; Dry skin ; Hyperkeratosis ; Retinopathy ; Hypoplasia of dental enamel ; Thoracic kyphosis ; Short stature ; Neurological speech impairment ; Generalized hyperpigmentation ; Skeletal dysplasia ; Macular degeneration ; Corneal erosion ; CNS demyelination ; Abnormal pyramidal signs ; Hemiplegia/hemiparesis ;
ALDH4A1 Hyperprolinemia, type II 1p36.13 Prolinuria ; Hyperglycinuria ; Seizures ; Hydroxyprolinuria ; Intellectual disability ; Hyperprolinemia ; Autosomal recessive inheritance ;
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency 6p22.3 Hallucinations ; Seizures ; Status epilepticus ; Generalized tonic-clonic seizures ; Generalized myoclonic seizures ; Intellectual disability ; Aggressive behavior ; Self-injurious behavior ; Ataxia ; Abnormality of eye movement ; Autism ; Global developmental delay ; Absence seizures ; Delayed speech and language development ; Motor delay ; Abnormality of metabolism/homeostasis ; Phenotypic variability ; Hyperkinesis ; EEG abnormality ; Anxiety ; Hyporeflexia ; Hyperactivity ; Incoordination ; Muscular hypotonia ; Psychosis ; Infantile onset ; Autosomal recessive inheritance ; Cognitive impairment ;
ALDH7A1 Epilepsy, pyridoxine-dependent 5q23.2 Muscular hypotonia ; Delayed speech and language development ; Prenatal movement abnormality ; Abnormality of metabolism/homeostasis ; Cognitive impairment ; Status epilepticus ; Autosomal recessive inheritance ; Generalized tonic-clonic seizures ; EEG abnormality ; Intellectual disability ; Respiratory distress ; Generalized myoclonic seizures ; Neonatal respiratory distress ; Neurological speech impairment ; Seizures ; Abnormality of movement ;
ALDOB Fructose intolerance 9q31.1 Intellectual disability ; Abdominal pain ; Jaundice ; Autosomal recessive inheritance ; Hyperuricemia ; Failure to thrive ; Coma ; Hepatic steatosis ; Proximal tubulopathy ; Malnutrition ; Vomiting ; Nausea ; Metabolic acidosis ; Lethargy ; Glycosuria ; Hepatomegaly ; Hypoglycemia ; Bicarbonaturia ; Seizures ; Hypophosphatemia ; Hyperuricosuria ; Fructose intolerance ; Transient aminoaciduria ; Lactic acidosis ; Hyperbilirubinemia ; Elevated hepatic transaminases ; Hyperphosphaturia ; Cirrhosis ; Gastrointestinal hemorrhage ; Proximal renal tubular acidosis ;
ALG12 Congenital disorder of glycosylation, type Ig (CDG1G) 22q13.33 Cognitive impairment ; Muscular hypotonia ; Abnormality of the genital system ; Abnormality of immune system physiology ; Intellectual disability ;
ALG13 Congenital disorder of glycosylation, type Is (CDG1S) Xq23 Hepatomegaly ; Abnormality of extrapyramidal motor function ; Optic atrophy ; Recurrent infections ; Horizontal nystagmus ; Infantile onset ; X-linked recessive inheritance ; Seizures ; Global developmental delay ; Type I transferrin isoform profile ; Muscular hypotonia ; Microcephaly ; Intellectual disability ;
ALG1 Congenital disorder of glycosylation, type Ik 16p13.3 Areflexia ; Nonimmune hydrops fetalis ; Cognitive impairment ; Nephropathy ; Hypertrophic cardiomyopathy ; Thin vermilion border ; Type I transferrin isoform profile ; Hepatomegaly ; Death in infancy ; Microcephaly ; Flexion contracture ; Abnormality of the genital system ; Hypertelorism ; Large fontanelles ; Micrognathia ; Abnormality of immune system physiology ; Cardiomyopathy ; Cerebral atrophy ; Muscular hypotonia ; Hepatic failure ; Intrauterine growth retardation ; Autosomal recessive inheritance ; Abnormality of the amniotic fluid ; Seizures ; Global developmental delay ; Splenomegaly ; Hypogonadism ; Intellectual disability ;
ALG2 ?Congenital disorder of glycosylation, type Ii 9q22.33 Iris coloboma ; Nystagmus ; Abnormality of coagulation ; Visual impairment ; Coloboma ; Cognitive impairment ; Global developmental delay ; Hyperreflexia ; Seizures ; Hypsarrhythmia ; Intellectual disability ; Cataract ; Hepatomegaly ;
ALG3 Congenital disorder of glycosylation, type Id (CDG1D) 3q27.1 Abnormality of the eye ; Long fingers ; Bifid uvula ; Failure to thrive ; Hypertonia ; Nail dysplasia ; Seizures ; Adducted thumb ; Arthrogryposis multiplex congenita ; Talipes equinovarus ; Muscular hypotonia ; Small nail ; Bulbous nose ; High palate ; Microcephaly ; Clinodactyly of the 5th toe ; Depressed nasal bridge ; Cerebellar atrophy ; Cerebral atrophy ; Strabismus ; Decreased light- and dark-adapted electroretinogram amplitude ; Muscular hypotonia of the trunk ; Severe visual impairment ; Villous atrophy ; Epicanthus ; Wide nasal bridge ; Macrotia ; Hypsarrhythmia ; Type I transferrin isoform profile ; Optic atrophy ; Autosomal recessive inheritance ; Diarrhea ; Hyperreflexia ; Iris coloboma ; Cognitive impairment ; Food intolerance ; Joint contracture of the hand ; Vomiting ; Global developmental delay ; Intellectual disability ;
ALG6 Congenital disorder of glycosylation, type Ic 1p31.3 Reduced factor XI activity ; Strabismus ; Reduced antithrombin III activity ; Ataxia ; Type I transferrin isoform profile ; Cognitive impairment ; Hepatic failure ; Seizures ; Muscular hypotonia ; Muscular hypotonia of the trunk ; Autosomal recessive inheritance ; Elevated serum transaminases during infections ; Global developmental delay ; Areflexia ; Intellectual disability ;
ALX1 ?Frontonasal dysplasia 3 12q21.31 LowIntellectual disabilityset, posteriorly rotated ears ; Facial cleft ; Upper eyelid coloboma ; Sparse eyelashes ; Intellectual disability ; Prominent glabella ; Absent eyebrow ; Brachycephaly ; Autosomal recessive inheritance ; Underdeveloped nasal alae ; Microphthalmos ; Cleft palate ; Wide nasal bridge ; Hypertelorism ;
ALX3 Frontonasal dysplasia 1 1p13.3 Median cleft lip ; Coloboma ; Epicanthus ; Frontal cutaneous lipoma ; Intellectual disability ; Widely-spaced maxillary central incisors ; Broad nasal tip ; Brachydactyly syndrome ; Low-set ears ; Camptodactyly ; Postaxial hand polydactyly ; Widow's peak ; Wide nasal bridge ; Short columella ; Conductive hearing impairment ; Tetralogy of Fallot ; Pectoral muscle hypoplasia/aplasia ; Clinodactyly ; Cranium bifidum occultum ; Anterior basal encephalocele ; Cataract ; Hypertelorism ; Median cleft palate ; Sporadic ; Preauricular skin tag ; Ptosis ; Microphthalmos ; Hypoplastic frontal sinuses ; Joint contracture of the hand ; Agenesis of corpus callosum ; Lipoma of corpus callosum ; Bifid nasal tip ; Hypoplasia of the maxilla ; Radial deviation of finger ;
ALX4 Frontonasal dysplasia 2 11p11.2 Fine hair ; Abnormality of dental morphology ; Short palpebral fissure ; Bifid nasal tip ; Cryptorchidism ; Intrauterine growth retardation ; Abnormality of the philtrum ; Microcephaly ; Oligohydramnios ; Hypertelorism ; Skull defect ; Encephalocele ; Craniosynostosis ; LowIntellectual disabilityset, posteriorly rotated ears ; Cerebellar vermis hypoplasia ; Alopecia ; Blepharophimosis ; Aplasia/Hypoplasia of the cerebellum ; Depressed nasal ridge ; Telecanthus ; Aplasia/Hypoplasia of the corpus callosum ; Sparse eyebrow ; Aplasia/Hypoplasia affecting the eye ; Midline defect of the nose ; Sparse eyelashes ; Depressed nasal bridge ; Aplasia/Hypoplasia involving the nose ; Anteverted nares ; Upslanted palpebral fissure ; Nystagmus ; Parietal foramina ; Hypoplasia of the corpus callosum ; Strabismus ; Cognitive impairment ; Frontal bossing ; Wide nasal bridge ; Scrotal hypoplasia ;
AMPD2 Pontocerebellar hypoplasia, type 9 (PCH9) 1p13.3 Clonus ; Ventriculomegaly ; Hypoplasia of the corpus callosum ; Global developmental delay ; Microcephaly ; Spasticity ; Cortical visual impairment ; Seizures ; Optic atrophy ; Cerebral cortical atrophy ; Muscular hypotonia of the trunk ; Intellectual disability ;
AMT Glycine encephalopathy 3p21.31 Myoclonus ; Hyperglycinemia ; Seizures ; Hyperactivity ; Recurrent singultus ; Hyperreflexia ; Aggressive behavior ; Death in infancy ; Encephalopathy ; Autosomal recessive inheritance ; Lethargy ; Restlessness ; Muscular hypotonia ; Hyperglycinuria ; Irritability ; Impulsivity ; Intellectual disability ; Agenesis of corpus callosum ;
ANK3 ?Mental retardation, autosomal recessive, 37 10q21.2 Aggressive behavior ; Sleep disturbance ; Spasticity ; Intellectual disability ; Muscular hypotonia ; Hyperactivity ; Autosomal recessive inheritance ;
ANK3 Mental retardation, autosomal recessive 37 10q21.2 Aggressive behavior ; Sleep disturbance ; Spasticity ; Intellectual disability ; Muscular hypotonia ; Hyperactivity ; Autosomal recessive inheritance ;
ANKRD11 KBG syndrome 16q24.3 Telecanthus ; Radial deviation of finger ; Abnormality of the ribs ; LowIntellectual disabilityset, posteriorly rotated ears ; Round face ; Delayed skeletal maturation ; Brachydactyly syndrome ; Hypertelorism ; Reduced number of teeth ; Macrodontia ; Autosomal dominant inheritance ; Oligodontia ; WidelyIntellectual disabilityspaced maxillary central incisors ; EEG abnormality ; Low anterior hairline ; Anteverted nares ; Global developmental delay ; Syndactyly ; Thoracic kyphosis ; Long philtrum ; Low posterior hairline ; Short neck ; Strabismus ; Abnormality of the femur ; Cryptorchidism ; Finger syndactyly ; Cervical ribs ; Vertebral arch anomaly ; Macrotia ; Thick eyebrow ; Abnormality of calvarial morphology ; Intellectual disability ; Underdeveloped nasal alae ; Short stature ; Aplasia/Hypoplasia of the eyebrow ; Clinodactyly ; Rib fusion ; Triangular face ; Abnormal form of the vertebral bodies ; Narrow mouth ; Cognitive impairment ; Single transverse palmar crease ; Long palpebral fissure ; Microcephaly ; Vertebral fusion ;
ANO10 Spinocerebellar ataxia, autosomal recessive 10 3p22.1-p21.33 Hypermetric saccades ; Pes cavus ; Truncal ataxia ; Hyperreflexia ; Nystagmus ; Gait ataxia ; Limb ataxia ; Cerebellar atrophy ; Dysarthria ; Autosomal recessive inheritance ; Fasciculations ; Dysmetria ; Intellectual disability ;
AP1S2 Mental retardation, X-linked syndromic 5 Xp22.2 Aplasia/Hypoplasia of the cerebellum ; Cryptorchidism ; Macrocephaly ; Muscular hypotonia ; Spasticity ; Global developmental delay ; Scoliosis ; Hernia of the abdominal wall ; Cerebral cortical atrophy ; Thick vermilion border ; Strabismus ; Coarse facial features ; Choreoathetosis ; Prominent forehead ; Long face ; Wide mouth ; Short philtrum ; Intellectual disability ; Flexion contracture ; Abnormality of the basal ganglia ; Behavioral abnormality ; Seizures ; Cognitive impairment ; Abnormality of the palate ; Deeply set eye ; Ventriculomegaly ; Mandibular prognathia ; Cerebral calcification ; Hydrocephalus ; XIntellectual disabilitylinked inheritance ; Neurological speech impairment ; SelfIntellectual disabilityinjurious behavior ; Gait ataxia ; HighIntellectual disabilityfrequency hearing impairment ; Gait disturbance ; Hemiplegia/hemiparesis ; Prominent nose ; Sensorineural hearing impairment ; Hyperreflexia ;
AP1S2 Mental retardation, X-linked syndromic 5 Xp22.2 Aplasia/Hypoplasia of the cerebellum ; Cryptorchidism ; Macrocephaly ; Muscular hypotonia ; Spasticity ; Global developmental delay ; Scoliosis ; Hernia of the abdominal wall ; Cerebral cortical atrophy ; Thick vermilion border ; Strabismus ; Coarse facial features ; Choreoathetosis ; Prominent forehead ; Long face ; Wide mouth ; Short philtrum ; Intellectual disability ; Flexion contracture ; Abnormality of the basal ganglia ; Behavioral abnormality ; Seizures ; Cognitive impairment ; Abnormality of the palate ; Deeply set eye ; Ventriculomegaly ; Mandibular prognathia ; Cerebral calcification ; Hydrocephalus ; X-linked inheritance ; Neurological speech impairment ; Self-injurious behavior ; Gait ataxia ; High-frequency hearing impairment ; Gait disturbance ; Hemiplegia/hemiparesis ; Prominent nose ; Sensorineural hearing impairment ; Hyperreflexia ;
AP3B1 Hermansky-Pudlak syndrome 2 5q14.1 Motor delay ; Periodontitis ; Aberrant melanosome maturation ; Recurrent bacterial infections ; Coarse facial features ; Neutropenia ; Thrombocytopenia ; LowIntellectual disabilityset ears ; Visual impairment ; Acetabular dysplasia ; Reduced visual acuity ; Upslanted palpebral fissure ; Splenomegaly ; Congenital onset ; Carious teeth ; Strabismus ; Smooth philtrum ; Photophobia ; Microcephaly ; Wide nasal bridge ; Thin upper lip vermilion ; Long philtrum ; Nystagmus ; Intellectual disability, mild ; Pulmonary fibrosis ; Albinism ; Posteriorly rotated ears ; Hepatomegaly ; Autosomal recessive inheritance ; Ocular albinism ; Fair hair ; Hip dysplasia ;
AP4B1 Spastic paraplegia 47, autosomal recessive 1p13.2 Slow progression ; Dysarthria ; Dystonia ; Hyperreflexia ; Global developmental delay ; Delayed speech and language development ; Neonatal hypotonia ; Intellectual disability, severe ; Congenital onset ; Hypoplasia of the corpus callosum ; Autosomal recessive inheritance ; Spastic paraplegia ; Microcephaly ; Waddling gait ; Abnormality of the periventricular white matter ; Babinski sign ;
AP4M1 Spastic paraplegia 50, autosomal recessive 7q22.1 Autosomal recessive inheritance ; Intellectual disability, progressive ; Congenital onset ; Talipes equinovarus ; Cerebellar atrophy ; Neonatal hypotonia ; Cerebral palsy ; Drooling ; Mandibular prognathia ; Spastic paraplegia ; Gliosis ; Hyperreflexia ; Microcephaly ; Adducted thumb ; Ventriculomegaly ; Pseudobulbar signs ; Babinski sign ; Strabismus ; Intellectual disability, severe ; Spastic tetraplegia ;
AP4S1 Spastic paraplegia 52, autosomal recessive 14q12 Intellectual disability, severe ; Spastic paraplegia ; Talipes equinovarus ; Microcephaly ; Global developmental delay ; Congenital onset ; Coarse facial features ; Cerebral palsy ; Autosomal recessive inheritance ; Wide mouth ; Prominent nose ; Hyperreflexia ; Loss of ability to walk ; Bulbous nose ; Flexion contracture ; Short stature ; Babinski sign ;
APOPT1 Mitochondrial complex IV deficiency 14q32.33 Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ; Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ; Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ; Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ; Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ; Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ; Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ; Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ; Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ;
APTX Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 9p21.1 Dystonia ; Scoliosis ; Truncal ataxia ; Incoordination ; Hypoalbuminemia ; Progressive external ophthalmoplegia ; Cognitive impairment ; Medial flaring of the eyebrow ; Dysarthria ; Ataxia ; Pes cavus ; Distal amyotrophy ; Hypometric saccades ; Tremor ; Gait ataxia ; Distal sensory impairment ; Juvenile onset ; Adult onset ; GazeIntellectual disabilityevoked nystagmus ; Autosomal recessive inheritance ; Muscle weakness ; Areflexia ; Oculomotor apraxia ; Choreoathetosis ; Limb ataxia ; Hyporeflexia ; Peripheral axonal degeneration ; Decreased number of large peripheral myelinated nerve fibers ; Cerebellar atrophy ; Hypercholesterolemia ;
ARFGEF2 Periventricular heterotopia with microcephaly 20q13.13 Periventricular gray matter heterotopia ; Global developmental delay ; Microcephaly ; Tetraparesis ; Hypoplasia of the corpus callosum ; Seizures ; Autosomal recessive inheritance ; Intellectual disability ; Infantile onset ; Hypsarrhythmia ; Poor eye contact ; Muscular hypotonia ;
ARG1 Argininemia 1p35.2 Hyperactivity ; Neurological speech impairment ; Aminoaciduria ; EEG abnormality ; Hyperammonemia ; Oroticaciduria ; Behavioral abnormality ; Cognitive impairment ; Diaminoaciduria ; Irritability ; Vomiting ; Seizures ; Progressive spastic quadriplegia ; Autosomal recessive inheritance ; Intellectual disability ; Global developmental delay ; Hemiplegia/hemiparesis ; Anorexia ; Postnatal growth retardation ;
ARHGAP11A Macrocephaly?megalencephaly syndrome 15q13.3 Intellectual disability ; Megalencephaly ; Optic atrophy ; Adrenal medullary hypoplasia ; Global developmental delay ; Dolichocephaly ; Broad forehead ; Mandibular prognathia ; Pointed chin ; Delayed speech and language development ; Coarse facial features ; Abnormality of the musculature ; Macrocephaly ;
ARHGAP31 Adams-Oliver syndrome 1 3q13.32-q13.33 Pulmonary artery stenosis ; Cleft upper lip ; Ventricular septal defect ; Cortical dysplasia ; Encephalocele ; Aplasia cutis congenita over posterior parietal area ; Autosomal dominant inheritance ; Tetralogy of Fallot ; Abnormality of the rib cage ; Polymicrogyria ; Cutis marmorata ; Global developmental delay ; Abnormality of the genitourinary system ; Alopecia ; Esotropia ; Phenotypic variability ; Cleft palate ; Small nail ; Autosomal recessive inheritance ; Pulmonic stenosis ; Seizures ; Talipes equinovarus ; Periventricular leukomalacia ; Toe syndactyly ; Muscular hypotonia ; Aplasia cutis congenita on trunk or limbs ; Pulmonary hypertension ; Brachydactyly syndrome ; Microcephaly ; Skull defect ; Hypoplasia of the corpus callosum ; Microphthalmos ; Supernumerary nipple ; Intellectual disability ; Ventriculomegaly ; Defect in the atrial septum ; Pachygyria ;
ARHGEF9 Epileptic encephalopathy, early infantile, 8 Xq11.1 Congenital onset ; Exaggerated startle response ; Intellectual disability, severe ; Epileptic encephalopathy ; Hypertonia ; Intellectual disability, progressive ; Seizures ; XIntellectual disabilitylinked recessive inheritance ;
ARID1A Coffin-Siris syndrome 2 1p36.11 Abnormality of the corpus callosum ; Absent fifth fingernail ; Recurrent infections ; Coarse facial features ; Sparse scalp hair ; Wide mouth ; Absent fifth toenail ; Intellectual disability ; Autosomal dominant inheritance ; Long eyelashes ; Feeding difficulties ; Thick lower lip vermilion ;
ARID1B Mental retardation, autosomal dominant 12 (MRD12) 6q25.3 Intellectual disability ; Downslanted palpebral fissures ; Autosomal dominant inheritance ; Bulbous nose ; Muscular hypotonia ; Low-set, posteriorly rotated ears ; Thin upper lip vermilion ; Short stature ;
ARL13B Joubert syndrome 8 (JBTS8) 3q11.1-q11.2 Oculomotor apraxia ; Global developmental delay ; Molar tooth sign on MRI ; Autosomal recessive inheritance ; Muscular hypotonia ; Intellectual disability ;
ARL6 {Bardet-Biedl syndrome 1, modifier of} 3q11.2 Intellectual disability ;
ARL6 Bardet-Biedl syndrome 3 3q11.2 Polydactyly ; Renal hypoplasia ; Brachydactyly syndrome ; External genital hypoplasia ; RodIntellectual disabilitycone dystrophy ; Obesity ;
ARSA Metachromatic leukodystrophy 22q13.33 Optic atrophy ; Babinski sign ; Cholecystitis ; Delusions ; Gallbladder dysfunction ; Progressive peripheral neuropathy ; Tetraplegia ; EMG: neuropathic changes ; Hallucinations ; Peripheral demyelination ; Dysarthria ; Mental deterioration ; Urinary incontinence ; Hyporeflexia ; Dystonia ; Autosomal recessive inheritance ; Intellectual disability ; Hyperreflexia ; Loss of speech ; Ataxia ; Gait disturbance ; Emotional lability ; Increased CSF protein ; Muscular hypotonia ; Decreased nerve conduction velocity ; Abnormality of the cerebral white matter ; Chorea ; Spastic tetraplegia ; Seizures ; Bulbar palsy ;
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy) 5q14.1 Ovoid vertebral bodies ; Depressed nasal bridge ; Cardiomyopathy ; Abnormality of the ribs ; Glaucoma ; Splenomegaly ; Thick lower lip vermilion ; Limitation of joint mobility ; Hepatomegaly ; Mucopolysacchariduria ; Broad ribs ; Hirsutism ; Otitis media ; Hydrocephalus ; Flared iliac wings ; Epiphyseal dysplasia ; Genu valgum ; Anterior wedging of L1 ; Autosomal recessive inheritance ; Hypoplastic acetabulae ; Hernia ; Disproportionate shortIntellectual disabilitytrunk short stature ; Abnormality of epiphysis morphology ; Kyphosis ; Recurrent upper respiratory tract infections ; Prominent sternum ; Inguinal hernia ; Coarse facial features ; Cervical myelopathy ; Split hand ; Macroglossia ; Umbilical hernia ; Opacification of the corneal stroma ; Abnormality of the heart valves ; Metaphyseal irregularity ; Abnormality of the nasal alae ; Hearing impairment ; Sinusitis ; Metaphyseal widening ; Anterior wedging of L2 ; Macrocephaly ; Hypoplastic iliac wing ; Short stature ; Hypoplasia of the odontoid process ; Lumbar hyperlordosis ; Dermatan sulfate excretion in urine ; Dolichocephaly ; Dysostosis multiplex ; Short neck ; Hip dysplasia ; Joint stiffness ;
ARSE Chondrodysplasia punctata, X-linked recessive Xp22.33 Epiphyseal stippling ; XIntellectual disabilitylinked recessive inheritance ; Short stature ; Short nose ; Depressed nasal bridge ; Abnormality of the vertebral column ; Anosmia ; Ichthyosis ; Short nasal septum ; Global developmental delay ; Hypogonadism ; Hearing impairment ; Short distal phalanx of finger ; Cataract ; Microcephaly ;
ARX Epileptic encephalopathy, early infantile, 1 Xp21.3 Cognitive impairment ; Muscular hypotonia of the trunk ; Choreoathetosis ; Generalized myoclonic seizures ; XIntellectual disabilitylinked recessive inheritance ; Dyspnea ; Hypertonia ; Spasticity ; Epileptic encephalopathy ; Hemiplegia/hemiparesis ; Hypsarrhythmia ; Dystonia ; Ventriculomegaly ; Microcephaly ; Dysphagia ; Hyperreflexia ; Intellectual disability ; Seizures ;
ARX Epileptic encephalopathy, early infantile, 1 Xp21.3 Cognitive impairment ; Muscular hypotonia of the trunk ; Choreoathetosis ; Generalized myoclonic seizures ; X-linked recessive inheritance ; Dyspnea ; Hypertonia ; Spasticity ; Epileptic encephalopathy ; Hemiplegia/hemiparesis ; Hypsarrhythmia ; Dystonia ; Ventriculomegaly ; Microcephaly ; Dysphagia ; Hyperreflexia ; Intellectual disability ; Seizures ;
ARX Hydranencephaly with abnormal genitalia Xp21.3 Long upper lip ; Ambiguous genitalia ; Aplasia/Hypoplasia of the corpus callosum ; XIntellectual disabilitylinked inheritance ; Seizures ; Microcephaly ; Specific learning disability ; Severe global developmental delay ; High palate ; Muscular hypotonia ; Thin upper lip vermilion ; Gliosis ; Decreased testicular size ; Abnormality of neuronal migration ; High forehead ; Lissencephaly ; Ventriculomegaly ; Diarrhea ; Hyperreflexia ; Duane anomaly ; Long philtrum ; Micropenis ; Cryptorchidism ; Wide anterior fontanel ; Pachygyria ; Hypoplasia of penis ; Spasticity ; Agenesis of corpus callosum ; Cognitive impairment ; Malabsorption ; Hypohidrosis ; LowIntellectual disabilityset ears ; Micrognathia ; Feeding difficulties in infancy ; Wide nasal bridge ; Prominent nasal bridge ;
ARX Mental retardation, X-linked 29 and others Xp21.3 Intellectual disability ; XIntellectual disabilitylinked recessive inheritance ;
ARX Proud syndrome Xp21.3 Scoliosis ; Agenesis of corpus callosum ; Seizures ; Prominent supraorbital ridges ; Intellectual disability, progressive ; Tapered finger ; Hyperconvex nail ; Broad alveolar ridges ; Intellectual disability, severe ; Spastic tetraplegia ; Hypertrichosis ; Nystagmus ; Abnormality of the hip bone ; Protruding ear ; Coarse facial features ; Strabismus ; Short stature ; Synophrys ; Low anterior hairline ; Microcephaly ; Visual impairment ; Tetraplegia ; Neonatal hypotonia ; Hypospadias ; Abnormality of the pinna ; Overlapping toe ; Renal dysplasia ; XIntellectual disabilitylinked inheritance ; Hirsutism ; Cryptorchidism ; Global developmental delay ; Large eyes ; High palate ; Optic atrophy ; Limb joint contracture ; Cognitive impairment ;
ASAH1 Farber lipogranulomatosis 8p22 Autosomal recessive inheritance ; Arthralgia ; Irritability ; Cherry red spot of the macula ; Variable expressivity ; Laryngomalacia ; Motor delay ; Respiratory insufficiency ; Abnormality of the skin ; Short stature ; Failure to thrive ; Skeletal muscle atrophy ; Progressive ; Hoarse cry ; Abnormality of the voice ; Recurrent respiratory infections ; Limitation of joint mobility ; Splenomegaly ; Hepatomegaly ; Arthritis ; Lipogranulomatosis ; Kyphosis ; Joint swelling ; Periarticular subcutaneous nodules ; Nystagmus ; Intellectual disability ; Reduced bone mineral density ;
ASL Argininosuccinic aciduria 7q11.21 Dry hair ; Vomiting ; Aminoaciduria ; Neonatal onset ; Hepatic fibrosis ; Irritability ; Hepatomegaly ; Protein avoidance ; EEG abnormality ; Respiratory alkalosis ; Global developmental delay ; Failure to thrive ; Ataxia ; Hypoargininemia ; Seizures ; Coma ; Short stature ; Cognitive impairment ; Feeding difficulties in infancy ; Intellectual disability ; Episodic ammonia intoxication ; Trichorrhexis nodosa ; Autosomal recessive inheritance ; Hyperammonemia ; Incoordination ; Hyperglutaminemia ; Oroticaciduria ; Cerebral edema ; Lethargy ;
ASNS Asparagine synthetase deficiency (ASNSD) 7q21.3 Hypoplasia of the pons ; Delayed myelination ; Cortical dysplasia ; Exaggerated startle response ; Hyperreflexia ; Hypoplasia of the corpus callosum ; Progressive ; Ventriculomegaly ; Autosomal recessive inheritance ; Respiratory insufficiency ; Spastic tetraplegia ; Muscular hypotonia of the trunk ; Encephalopathy ; Feeding difficulties ; Micrognathia ; Global developmental delay ; Sloping forehead ; Long foot ; Cerebellar hypoplasia ; Hypsarrhythmia ; Seizures ; Cortical visual impairment ; Large hands ; Failure to thrive ; Cortical gyral simplification ; Microcephaly ; Macrotia ; Intellectual disability ;
ASPA Canavan disease 17p13.2 Brain atrophy ; CNS demyelination ; Optic atrophy ; Muscular hypotonia ; Feeding difficulties in infancy ; Cognitive impairment ; Macrocephaly ; Generalized seizures ; Visual impairment ; Nystagmus ; Aplasia/Hypoplasia involving the central nervous system ; Abnormality of visual evoked potentials ; Hypertonia ; Hearing impairment ; Blindness ; Reduced consciousness/confusion ; Autosomal recessive inheritance ; Developmental regression ; Opisthotonus ; EEG abnormality ; Delayed closure of the anterior fontanelle ; Intellectual disability ;
ASPM Microcephaly 5, primary, autosomal recessive 1q31.3 paternal ; Intellectual disability ;
ASPM Microcephaly 5, primary, autosomal recessive 1q31.3 Ventriculomegaly ; Sloping forehead ; Attention deficit hyperactivity disorder ; Autosomal recessive inheritance ; Short stature ; Delayed speech and language development ; Microcephaly ; Small cerebral cortex ; Motor delay ; Agenesis of corpus callosum ; Congenital onset ; Intellectual disability ; Cortical gyral simplification ;
ASS1 Citrullinemia 9q34.11 Hepatomegaly ; Hyperammonemia ; Vomiting ; Failure to thrive ; Intellectual disability ; Phenotypic variability ; Protein avoidance ; Hypoargininemia ; Respiratory alkalosis ; Autosomal recessive inheritance ; Irritability ; Ataxia ; Seizures ; Neonatal onset ; Hyperglutaminemia ; Coma ; Cerebral edema ; Oroticaciduria ; Global developmental delay ; Episodic ammonia intoxication ; Lethargy ;
ASXL1 Bohring-Opitz syndrome 20q11.21 Supernumerary nipple ; Defect in the atrial septum ; Intrauterine growth retardation ; Retrognathia ; Gastroesophageal reflux ; Autosomal dominant inheritance ; Elbow dislocation ; Seizures ; Microcephaly ; Broad alveolar ridges ; Camptodactyly of finger ; Prominent forehead ; Hypertelorism ; Cleft palate ; Deep palmar crease ; Intestinal malrotation ; Posteriorly rotated ears ; Retinopathy ; Prominent metopic ridge ; Vesicoureteral reflux ; Camptodactyly ; Feeding difficulties ; Convex nasal ridge ; DandyIntellectual disabilityWalker malformation ; Abnormality of the pancreas ; Wide nasal bridge ; Deep plantar creases ; Hyperechogenic pancreas ; Coarse hair ; Thick hair ; Abnormality of the optic nerve ; Trigonocephaly ; Abnormality of the anterior chamber ; Narrow chest ; Dislocated radial head ; Strabismus ; Autosomal recessive inheritance ; Narrow palate ; Broad palm ; Mesomelic/rhizomelic limb shortening ; Low anterior hairline ; Narrow forehead ; Long face ; Nevus flammeus ; Cerebral cortical atrophy ; Syndactyly ; Hypoplasia of the corpus callosum ; Ulnar deviation of the wrist ; Failure to thrive ; Muscular hypotonia ; Cleft upper lip ; Cognitive impairment ; Overlapping toe ; Myopia ; Limitation of joint mobility ; Underdeveloped supraorbital ridges ; Upslanted palpebral fissure ; Proptosis ; Heterotopia ; Agenesis of corpus callosum ; Facial hemangioma ; Short thorax ; Micrognathia ; Delayed peripheral myelination ; Intellectual disability, profound ; Polyhydramnios ; Aplasia/Hypoplasia of the corpus callosum ; LowIntellectual disabilityset, posteriorly rotated ears ; Sacral dimple ; Malformation of the heart and great vessels ; Tapered finger ; Ulnar deviation of finger ; Hirsutism ; Ventricular septal defect ; Short toe ; Full cheeks ; Wide intermamillary distance ; Synophrys ; Hypoplasia of the brainstem ; Global developmental delay ; LowIntellectual disabilityset ears ;
ASXL3 Bainbridge?Ropers syndrome (BRPS) 18q12.1 - ; Intellectual disability ;
ATIC AICA-ribosiduria due to ATIC deficiency 2q35 Frontal bossing ; Thin upper lip vermilion ; Anteverted nares ; Seizures ; Intellectual disability, profound ; Wide mouth ; Autosomal recessive inheritance ; Brachycephaly ; Abnormality of the skin ; Congenital blindness ; LowIntellectual disabilityset ears ; Fused labia minora ; Abnormality of metabolism/homeostasis ; Clitoromegaly ; Defect in the atrial septum ; Prominent nasal bridge ; Prominent forehead ; Muscular hypotonia ; Optic atrophy ;
ATM Ataxia-telangiectasia 11q22.3 Strabismus ; Autosomal recessive inheritance ; Ataxia ; Defective B cell differentiation ; Abnormal spermatogenesis ; Lymphopenia ; Dystonia ; NonIntellectual disabilityHodgkin lymphoma ; Reduced tendon reflexes ; Glucose intolerance ; Female hypogonadism ; Elevated alphaIntellectual disabilityfetoprotein ; Conjunctival telangiectasia ; Nystagmus ; Myoclonus ; Hodgkin lymphoma ; Recurrent bronchitis ; Bronchiectasis ; IgA deficiency ; Sinusitis ; Abnormality of the hair ; Diabetes mellitus ; Leukemia ; Choreoathetosis ; Dysarthria ; Short stature ; Delayed puberty ; Immunoglobulin IgG2 deficiency ; Seizures ; Hypoplasia of the thymus ; Tremor ; Decreased number of CD4+ T cells ; CafeIntellectual disabilityauIntellectual disabilitylait spot ;
ATP13A2 ?Ceroid lipofuscinosis, neuronal, 12 1p36.13 MaskIntellectual disabilitylike facies ; Spasticity ; Parkinsonism with favorable response to dopaminergic medication ; Akinesia ; Autosomal recessive inheritance ; Hallucinations ; Anarthria ; Myoclonus ; Torticollis ; Aggressive behavior ; Hypokinesia ; Anosmia ; Dementia ; Slow saccadic eye movements ; Hyperreflexia ; Parkinsonism ; Babinski sign ; Rapidly progressive ; Postural instability ; Hyposmia ; Rigidity ; Psychotic episodes ; Supranuclear gaze palsy ; Paraparesis ;
ATP1A2 Alternating hemiplegia of childhood 1 1q23.2 Mental deterioration ; Autosomal dominant inheritance ; Episodic hemiplegia ; Nystagmus ; Choreoathetosis ; Generalized tonicIntellectual disabilityclonic seizures ; Dystonia ; Intellectual disability ; Episodic quadriplegia ;
ATP1A2 Migraine, familial hemiplegic, 2 1q23.2 Hemiplegia ; Dysarthria ; Seizures ; Confusion ; Fever ; Apraxia ; Incomplete penetrance ; Dysphasia ; Intellectual disability ; Coma ; Aphasia ; Migraine with aura ; Vertigo ; Blurred vision ; Transient unilateral blurring of vision ; Hemiparesis ; Diplopia ; Drowsiness ; Episodic ataxia ; Autosomal dominant inheritance ;
ATP2A2 Darier disease 12q24.11 Seizures ; Abnormality of the nail ; Pruritus ; Acrokeratosis ; Bipolar affective disorder ; Subungual hyperkeratotic fragments ; Palmoplantar keratoderma ; Intellectual disability, mild ; Palmar pits ; Plantar pits ; Ridged nail ; Autosomal dominant inheritance ; Enlargement of parotid gland ; Schizophrenia ;
ATP5E Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 20q13.32 Decreased activity of mitochondrial ATP synthase complex ; Intellectual disability ; Autosomal recessive inheritance ; Peripheral neuropathy ; Hypertrophic cardiomyopathy ; 3-Methylglutaconic aciduria ; Lactic acidosis ;
ATP6AP2 Mental retardation, X-linked, syndromic, Hedera type Xp11.4 Generalized tonic-clonic seizures ; Delayed speech and language development ; Intellectual disability ; Infantile onset ; Motor delay ; X-linked recessive inheritance ;
ATP6AP2 ?Mental retardation, X-linked, syndromic, Hedera type Xp11.4 Generalized tonicIntellectual disabilityclonic seizures ; Delayed speech and language development ; Intellectual disability ; Infantile onset ; Motor delay ; XIntellectual disabilitylinked recessive inheritance ;
ATP6AP2 Parkinsonism with spasticity, X-linked, (3), Autosomal recessive Xp11.4 Parkinsonism ; Slow progression ; Autosomal recessive inheritance ; Cogwheel rigidity ; Resting tremor ; Bradykinesia ; Intellectual disability ;
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA 12q24.31 LowIntellectual disabilityset ears ; Carious teeth ; Pachygyria ; Autosomal recessive inheritance ; DandyIntellectual disabilityWalker malformation ; Inguinal hernia ; Short nose ; Flat face ; Downslanted palpebral fissures ; Failure to thrive ; Polymicrogyria ; Strabismus ; Congenital hip dislocation ; Microcephaly ; Wide anterior fontanel ; Intellectual disability ; Joint hypermobility ; Abnormal isoelectric focusing of serum transferrin ; Lipodystrophy ; Muscular hypotonia ; Myopia ; Narrow mouth ; Pes planus ; Motor delay ; Feeding difficulties in infancy ; Scoliosis ; Frontal bossing ; Redundant skin ; Seizures ; Midface retrusion ; High palate ; Cutis laxa ; Malar flattening ; Anteverted nares ; Coarse hair ; Intrauterine growth retardation ; Long philtrum ;
ATP7A Menkes disease Xq21.1 Hypertonia ; Metaphyseal widening ; Exostoses ; Abnormality of the palate ; Abnormal hair quantity ; Microcephaly ; Feeding difficulties in infancy ; Developmental regression ; Wormian bones ; Woolly hair ; Abnormality of the liver ; Brachycephaly ; Osteoporosis ; Narrow chest ; Thickened skin ; Intrauterine growth retardation ; Hyperextensible skin ; Malabsorption ; Metaphyseal spurs ; Aneurysm ; Seizures ; Abnormality of the face ; Nausea and vomiting ; Venous insufficiency ; Umbilical hernia ; Intellectual disability ; Mask-like facies ; Micrognathia ; Muscular hypotonia ; Intracranial hemorrhage ; Hypothermia ; Prominent occiput ; Muscle weakness ; Joint hypermobility ; Joint laxity ; Hypopigmentation of the skin ; Dry skin ; Behavioral abnormality ; Aplasia/Hypoplasia of the abdominal wall musculature ; Short stature ; Pectus excavatum ; Hypopigmentation of hair ; Sparse hair ; Atypical scarring of skin ; Death in childhood ; Arterial stenosis ; X-linked recessive inheritance ; Cognitive impairment ; Cutis laxa ; Full cheeks ; Abnormality of the carotid arteries ;
ATP7A Spinal muscular atrophy, distal, X?linked 3, Xq21.1 Distal amyotrophy ; Spinal muscular atrophy ; Abnormal peripheral nervous system morphology ; Unsteady gait ; X-linked recessive inheritance ; Pes cavus ; Hyporeflexia ; Slow progression ; Juvenile onset ; Distal muscle weakness ; EMG: neuropathic changes ; Intellectual disability ;
ATP8A2 ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 13q12.13 Autosomal recessive inheritance ; Congenital onset ; Cerebral atrophy ; Corpus callosum atrophy ; Cerebellar atrophy ; Truncal ataxia ; Intellectual disability ; Inability to walk ; Dysarthria ;
ATR Cutaneous telangiectasia and cancer syndrome, familial 14q32.13 Hypoplasia of dental enamel ; Carious teeth ; Autosomal dominant inheritance ; Telangiectasia ; Alopecia ; Intellectual disability ;
ATR Seckel syndrome 1 (SCKL1) 14q32.13 Ivory epiphyses ; Hypoplasia of dental enamel ; Blepharophimosis ; Proportionate short stature ; Scoliosis ; Hyperactivity ; Pes planus ; Talipes ; Intellectual disability ; Abnormality of the pinna ; Convex nasal ridge ; Microcephaly ; Pachygyria ; High palate ; Autosomal recessive inheritance ; Sandal gap ; Cryptorchidism ; Dental malocclusion ; Large basal ganglia ; Elbow flexion contracture ; Seizures ; Hip dislocation ; Prominent nose ; Cone-shaped epiphyses of the phalanges of the hand ; Hypoplasia of proximal fibula ; Pancytopenia ; Cleft palate ; Selective tooth agenesis ; Facial asymmetry ; Dislocated radial head ; Small anterior fontanelle ; Intrauterine growth retardation ; Hypospadias ; Clitoromegaly ; Delayed skeletal maturation ; Single transverse palmar crease ; Cerebellar vermis hypoplasia ; Micrognathia ; 11 pairs of ribs ; Large eyes ; Low-set ears ; Abnormal finger flexion creases ; Downslanted palpebral fissures ; Dental crowding ; Hypoplasia of proximal radius ; Clinodactyly of the 5th finger ; Strabismus ; Sloping forehead ;
ATRX Alpha-thalassemia/mental retardation syndrome Xq21.1 Shawl scrotum ; Thick lower lip vermilion ; Radial deviation of finger ; Epicanthus ; Gastroesophageal reflux ; Infantile muscular hypotonia ; Muscular hypotonia ; Clinodactyly ; Microtia ; Cryptorchidism ; Tapered finger ; Intellectual disability ; Short nose ; Microcephaly ; Protruding tongue ; XIntellectual disabilitylinked dominant inheritance ; Constipation ; Male pseudohermaphroditism ; Malar flattening ; Sensorineural hearing impairment ; Anteverted nares ; UIntellectual disabilityShaped upper lip vermilion ; Hemivertebrae ; Hypospadias ; Absent frontal sinuses ; Telecanthus ; Global developmental delay ; Cognitive impairment ; Hypochromic microcytic anemia ; Neurological speech impairment ; Hydronephrosis ; Kyphoscoliosis ; Umbilical hernia ; Hypertelorism ; WidelyIntellectual disabilityspaced maxillary central incisors ; Autism ; Ambiguous genitalia ; Depressed nasal bridge ; Hypoplasia of penis ; Micropenis ; Perimembranous ventricular septal defect ; Renal agenesis ; Depressed nasal ridge ; Cerebral atrophy ; Abnormality of the fontanelles or cranial sutures ; Spasticity ; Short stature ; Macroglossia ; Coxa valga ; Postnatal growth retardation ; LowIntellectual disabilityset ears ; Reduced alpha/beta synthesis ratio ; Talipes ; Posteriorly rotated ears ; Abnormality of the heme biosynthetic pathway ; Talipes equinovarus ; Phenotypic variability ; Abnormality of metabolism/homeostasis ; Seizures ; Abnormality of the tongue ; Everted lower lip vermilion ;
ATRX Alpha-thalassemia/mental retardation syndrome Xq21.1 Shawl scrotum ; Thick lower lip vermilion ; Radial deviation of finger ; Epicanthus ; Gastroesophageal reflux ; Infantile muscular hypotonia ; Muscular hypotonia ; Clinodactyly ; Microtia ; Cryptorchidism ; Tapered finger ; Intellectual disability ; Short nose ; Microcephaly ; Protruding tongue ; X-linked dominant inheritance ; Constipation ; Male pseudohermaphroditism ; Malar flattening ; Sensorineural hearing impairment ; Anteverted nares ; U-Shaped upper lip vermilion ; Hemivertebrae ; Hypospadias ; Absent frontal sinuses ; Telecanthus ; Global developmental delay ; Cognitive impairment ; Hypochromic microcytic anemia ; Neurological speech impairment ; Hydronephrosis ; Kyphoscoliosis ; Umbilical hernia ; Hypertelorism ; Widely-spaced maxillary central incisors ; Autism ; Ambiguous genitalia ; Depressed nasal bridge ; Hypoplasia of penis ; Micropenis ; Perimembranous ventricular septal defect ; Renal agenesis ; Depressed nasal ridge ; Cerebral atrophy ; Abnormality of the fontanelles or cranial sutures ; Spasticity ; Short stature ; Macroglossia ; Coxa valga ; Postnatal growth retardation ; Low-set ears ; Reduced alpha/beta synthesis ratio ; Talipes ; Posteriorly rotated ears ; Abnormality of the heme biosynthetic pathway ; Talipes equinovarus ; Phenotypic variability ; Abnormality of metabolism/homeostasis ; Seizures ; Abnormality of the tongue ; Everted lower lip vermilion ;
ATRX Alpha-thalassemia myelodysplasia syndrome, somatic Xq21.1 Bruising susceptibility ; Myelodysplasia ; Respiratory insufficiency ; Microcytic anemia ; Abnormality of neutrophils ; Hypochromic microcytic anemia ; Reduced alpha/beta synthesis ratio ; Abnormality of coagulation ; Hemoglobin H ; Thrombocytopenia ; Intellectual disability ;
ATRX Mental retardation-hypotonic facies syndrome, X-linked Xq21.1 Protruding tongue ; Behavioral abnormality ; Macroglossia ; Exotropia ; Optic atrophy ; Depressed nasal bridge ; Narrow forehead ; Scrotal hypoplasia ; Tented upper lip vermilion ; Triangular nasal tip ; Genu valgum ; Sensorineural hearing impairment ; Coarse facial features ; Hyperreflexia ; Short stature ; Epicanthus ; Drooling ; Obesity ; UIntellectual disabilityShaped upper lip vermilion ; Pes planus ; Slender finger ; Ptosis ; Lower limb hypertonia ; Short neck ; Kyphoscoliosis ; Short upper lip ; WidelyIntellectual disabilityspaced maxillary central incisors ; Malar flattening ; Thin upper lip vermilion ; Intellectual disability, severe ; Microcephaly ; Paroxysmal bursts of laughter ; Abnormality of blood and bloodIntellectual disabilityforming tissues ; Abnormality of the palate ; Gastroesophageal reflux ; Microtia ; Wide mouth ; Anteverted nares ; Brachydactyly syndrome ; Talipes equinovarus ; Hyperactivity ; Radial deviation of finger ; Renal hypoplasia ; Hypospadias ; Phenotypic variability ; Micrognathia ; LowIntellectual disabilityset ears ; Upslanted palpebral fissure ; Vesicoureteral reflux ; Infantile muscular hypotonia ; Neurological speech impairment ; High palate ; Tapered finger ; Hypogonadism ; Micropenis ; Midface retrusion ; Posteriorly rotated ears ; Dolichocephaly ; Open mouth ; Decreased testicular size ; Delayed skeletal maturation ; Cryptorchidism ; Constipation ; Hypertelorism ; Intellectual disability, progressive ; Thick lower lip vermilion ; Talipes calcaneovalgus ; XIntellectual disabilitylinked recessive inheritance ; Cognitive impairment ; Vomiting ; Wide nasal bridge ;
ATRX Mental retardation-hypotonic facies syndrome, X-linked Xq21.1 Protruding tongue ; Behavioral abnormality ; Macroglossia ; Exotropia ; Optic atrophy ; Depressed nasal bridge ; Narrow forehead ; Scrotal hypoplasia ; Tented upper lip vermilion ; Triangular nasal tip ; Genu valgum ; Sensorineural hearing impairment ; Coarse facial features ; Hyperreflexia ; Short stature ; Epicanthus ; Drooling ; Obesity ; U-Shaped upper lip vermilion ; Pes planus ; Slender finger ; Ptosis ; Lower limb hypertonia ; Short neck ; Kyphoscoliosis ; Short upper lip ; Widely-spaced maxillary central incisors ; Malar flattening ; Thin upper lip vermilion ; Intellectual disability, severe ; Microcephaly ; Paroxysmal bursts of laughter ; Abnormality of blood and blood-forming tissues ; Abnormality of the palate ; Gastroesophageal reflux ; Microtia ; Wide mouth ; Anteverted nares ; Brachydactyly syndrome ; Talipes equinovarus ; Hyperactivity ; Radial deviation of finger ; Renal hypoplasia ; Hypospadias ; Phenotypic variability ; Micrognathia ; Low-set ears ; Upslanted palpebral fissure ; Vesicoureteral reflux ; Infantile muscular hypotonia ; Neurological speech impairment ; High palate ; Tapered finger ; Hypogonadism ; Micropenis ; Midface retrusion ; Posteriorly rotated ears ; Dolichocephaly ; Open mouth ; Decreased testicular size ; Delayed skeletal maturation ; Cryptorchidism ; Constipation ; Hypertelorism ; Intellectual disability, progressive ; Thick lower lip vermilion ; Talipes calcaneovalgus ; X-linked recessive inheritance ; Cognitive impairment ; Vomiting ; Wide nasal bridge ;
AUH 3-methylglutaconic aciduria, type I 9q22.31 Dystonia ; Febrile seizures ; Leukoencephalopathy ; Dysarthria ; Phenotypic variability ; Spastic tetraplegia ; Failure to thrive ; Delayed speech and language development ; Seizures ; Cognitive impairment ; Optic atrophy ; Ataxia ; Metabolic acidosis ; Hypoglycemia ; Urinary incontinence ; Hyperreflexia ; Motor delay ; Infantile onset ; Autosomal recessive inheritance ; 3-Methylglutaconic aciduria ; Cerebral atrophy ; Short attention span ; Athetosis ; Intellectual disability ;
AUTS2 Mental retardation, autosomal dominant 26 3q25-q27 - ;
AUTS2 Mental retardation, autosomal dominant 26 3q25-q27 Intellectual disability ;
AVPR2 Diabetes insipidus, nephrogenic Xq28 Seizures ; Short stature ; Unexplained fevers ; Hypertonic dehydration ; Hypernatremia ; Feeding difficulties in infancy ; Polyuria ; Irritability ; Vomiting ; Failure to thrive ; Intellectual disability ; Polydipsia ; Megacystis ; Diabetes insipidus ; Neonatal onset ; XIntellectual disabilitylinked recessive inheritance ; Constipation ;
B3GAT3 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 11q12.3 Narrow mouth ; Mitral valve prolapse ; Cutis laxa ; Narrow chest ; Large eyes ; Autosomal recessive inheritance ; Talipes equinovarus ; Ligamentous laxity ; Hip dislocation ; Hypermetropia ; Microtia ; Microdontia ; Scoliosis ; LowIntellectual disabilityset ears ; Multiple joint dislocation ; Radioulnar synostosis ; Hypertelorism ; Enlarged metaphyses ; Congenital glaucoma ; Accelerated skeletal maturation ; Elbow flexion contracture ; Cleft palate ; Prominent forehead ; Small face ; Patent foramen ovale ; Pes planus ; Thick eyebrow ; Talipes equinovalgus ; Knee dislocation ; Broad distal phalanges of all fingers ; Depressed nasal bridge ; Left ventricular hypertrophy ; Metatarsus adductus ; Hydrocephalus ; Downslanted palpebral fissures ; Aortic root dilatation ; Short stature ; Amblyopia ; Bilateral elbow dislocations ; Frontal bossing ; Brachycephaly ; Spatulate thumbs ; Osteopenia ; Short neck ; Cardiomegaly ; Joint laxity ; Esotropia ; Low posterior hairline ; Bicuspid aortic valve ;
B4GALNT1 Spastic paraplegia 26, autosomal recessive 12q13.3 Spastic gait ; Dysarthria ; Spastic paraplegia ; Frequent falls ; Scoliosis ; Hyperreflexia ; Distal amyotrophy ; Progressive ; Autosomal recessive inheritance ; Intellectual disability, mild ; Lower limb spasticity ; Toe walking ; Pes cavus ; Dysmetria ; Cerebral cortical atrophy ; Slow progression ; Dystonia ; Emotional lability ; Dyskinesia ; Babinski sign ; Difficulty walking ;
B4GALT7 Ehlers-Danlos syndrome with short stature and limb anomalies 5q35.3 Narrow chest ; Radioulnar synostosis ; Short stature ; Single transverse palmar crease ; Pes planus ; Muscular hypotonia ; Autosomal recessive inheritance ; Sparse scalp hair ; Failure to thrive ; Wide nasal bridge ; Arachnodactyly ; Narrow mouth ; Global developmental delay ; Proptosis ; Small face ; Macrocephaly ; Short clavicles ; Long toe ; Palmoplantar cutis gyrata ; Joint laxity ; Coxa valga ; Osteopenia ; Bifid uvula ; Slender toe ; Atrophic scars ; Absent earlobe ; Intellectual disability ;
BBS10 Bardet?Biedl syndrome 10 (BBS10) 12q21.2 Hypogonadism ; Rod-cone dystrophy ; Cognitive impairment ; Polydactyly ; Obesity ; Renal insufficiency ; Intellectual disability ;
BBS10 Short-rib thoracic dysplasia 3 with or without polydactyly 12q21.2 Enlarged kidneys ; Horizontal ribs ; Brachydactyly syndrome ; Cone-shaped epiphysis ; Femoral bowing ; Thoracic hypoplasia ; Renal dysplasia ; Scoliosis ; Lateral clavicle hook ; Absent tibia ; Polycystic kidney dysplasia ; Short stature ; Acetabular spurs ; Digenic inheritance ; Autosomal recessive inheritance ; Short ribs ; Metaphyseal widening ; Metaphyseal spurs ; Intellectual disability ;
BBS12 Bardet?Biedl syndrome 12 (BBS12) 4q27 Hypogonadism ; Rod-cone dystrophy ; Cognitive impairment ; Polydactyly ; Obesity ; Intellectual disability ;
BBS1 Bardet-Biedl syndrome 1 11q13.2 Gait imbalance ; Brachydactyly syndrome ; Broad foot ; Left ventricular hypertrophy ; Myopia ; Radial deviation of finger ; Poor coordination ; Autosomal recessive inheritance ; Congenital primary aphakia ; Micropenis ; Short foot ; Diabetes mellitus ; Biliary tract abnormality ; Hirsutism ; Astigmatism ; Hypogonadism ; Neurological speech impairment ; Syndactyly ; Hepatic fibrosis ; Obesity ; Nephrogenic diabetes insipidus ; High palate ; Delayed speech and language development ; Intellectual disability ; Decreased testicular size ; Ataxia ; Retinal degeneration ; Asthma ; Foot polydactyly ; Nystagmus ; Strabismus ; Abnormality of the kidney ; Dental crowding ; Hypertension ; Postaxial hand polydactyly ; Hypodontia ; Global developmental delay ; Specific learning disability ;
BBS2 Bardet-Biedl syndrome 2 16q13 Global developmental delay ; Obesity ; Hypogonadism ; Intellectual disability ; Retinal degeneration ; External genital hypoplasia ; RodIntellectual disabilitycone dystrophy ; Postaxial hand polydactyly ;
BBS4 Bardet?Biedl syndrome 4 (BBS4) 15q24.1 External genital hypoplasia ; Syndactyly ; Cryptorchidism ; Retinal degeneration ; Hypogonadism ; Brachydactyly syndrome ; Polydactyly ; Obesity ; Renal cyst ; Rod-cone dystrophy ; Nyctalopia ; Intellectual disability ;
BBS5 Bardet?Biedl syndrome 5 (BBS5) 2q31.1 Macular dystrophy ; Brachydactyly syndrome ; Rod-cone dystrophy ; External genital hypoplasia ; Obesity ; Syndactyly ; Cognitive impairment ; Hypogonadism ; Intellectual disability ;
BBS7 Bardet?Biedl syndrome 7 (BBS7) 4q27 External genital hypoplasia ; Polydactyly ; Obesity ; Rod-cone dystrophy ; Intellectual disability ;
BBS9 Bardet-Biedl syndrome 9 7p14.3 Intellectual disability ; RodIntellectual disabilitycone dystrophy ; Obesity ; Polydactyly ;
BCAP31 Deafness, dystonia, and cerebral hypomyelination Xq28 Microcephaly ; Strabismus ; XIntellectual disabilitylinked recessive inheritance ; Failure to thrive ; Global developmental delay ; CNS hypomyelination ; Abnormal pyramidal signs ; Sensorineural hearing impairment ; Dystonia ; Cerebellar atrophy ; Cerebral atrophy ; Intellectual disability ; Abnormal facial shape ; Cerebral hypomyelination ; Tetraplegia ;
BCKDHA Maple syrup urine disease, type Ia 19q13.2 Ataxia ; Vomiting ; Elevated plasma branched chain amino acids ; Hypertonia ; Cerebral edema ; Intellectual disability ; Seizures ; Pancreatitis ; Lactic acidosis ; Lethargy ; Autosomal recessive inheritance ; Hallucinations ; Muscular hypotonia ; Coma ; Feeding difficulties in infancy ; Ketosis ; Growth abnormality ; Hypoglycemia ;
BCKDHB Maple syrup urine disease, type Ib 6q14.1 Ataxia ; Vomiting ; Elevated plasma branched chain amino acids ; Hypertonia ; Cerebral edema ; Intellectual disability ; Seizures ; Pancreatitis ; Lactic acidosis ; Lethargy ; Autosomal recessive inheritance ; Hallucinations ; Muscular hypotonia ; Coma ; Feeding difficulties in infancy ; Ketosis ; Growth abnormality ; Hypoglycemia ;
BCKDK Branched-chain ketoacid dehydrogenase kinase deficiency 16p11.2 Abnormality of branched chain family amino acid metabolism ; Seizures ; Intellectual disability ; Autism ;
BCOR Microphthalmia, syndromic 2 Xp11.4 Mitral valve prolapse ; Long philtrum ; Long face ; Motor delay ; Cleft palate ; Glaucoma ; Radioulnar synostosis ; Increased number of teeth ; Submucous cleft hard palate ; Midline defect of the nose ; 2Intellectual disability3 toe syndactyly ; Hammertoe ; Sensorineural hearing impairment ; Persistent hyperplastic primary vitreous ; Congenital cataract ; Ptosis ; Broad nasal tip ; Blepharophimosis ; Reduced number of teeth ; Anophthalmia ; Dental malocclusion ; Aortic valve stenosis ; Pulmonic stenosis ; Bifid uvula ; Intellectual disability, mild ; Asymmetry of the ears ; Cataract ; Bifid nasal tip ; Camptodactyly of toe ; Cryptorchidism ; Defect in the atrial septum ; Toe syndactyly ; Aplasia/Hypoplasia affecting the eye ; Short stature ; Oligodontia ; Microphthalmos ; Persistence of primary teeth ; Microcephaly ; Narrow face ; Exotropia ; Septate vagina ; Patent ductus arteriosus ; Microcornea ; Abnormality of the cardiac septa ; Prominent nasal bridge ; Posteriorly rotated ears ; Fused teeth ; Laterally curved eyebrow ; Delayed eruption of teeth ; XIntellectual disabilitylinked dominant inheritance ; Ventricular septal defect ; Thick eyebrow ; Visual loss ;
BCS1L Bjornstad syndrome 2q35 Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes ; Brittle hair ; Hypertrichosis ; Aplasia/Hypoplasia of the eyebrow ; Coarse hair ; Sensorineural hearing impairment ; Abnormality of the eyelashes ; Anhidrosis ; Variable expressivity ; Autosomal recessive inheritance ; Pili torti ; Dry hair ; Hypogonadism ; Alopecia ; Intellectual disability ;
BLM Bloom syndrome (BLM) 15q26.1 Hypertrichosis ; Leukemia ; Recurrent respiratory infections ; Abnormality of chromosome stability ; Facial telangiectasia in butterfly midface distribution ; Short nose ; Cafe-au-lait spot ; Squamous cell carcinoma ; Postnatal growth retardation ; Prominent nose ; Type II diabetes mellitus ; Specific learning disability ; Delayed skeletal maturation ; Chronic lung disease ; Bronchiectasis ; Dolichocephaly ; Hand polydactyly ; Agenesis of maxillary lateral incisor ; Intrauterine growth retardation ; Malar flattening ; Azoospermia ; Cutaneous photosensitivity ; Cryptorchidism ; Autosomal recessive inheritance ; IgM deficiency ; Syndactyly ; Protruding ear ; Narrow face ; Clinodactyly of the 5th finger ; IgA deficiency ; Sinusitis ; Microcephaly ; Spotty hyperpigmentation ; Micrognathia ; Short stature ; Decreased fertility in females ; Diarrhea ; IgG deficiency ; Lymphoma ; Cheekbone underdevelopment ; High pitched voice ; Irregular hyperpigmentation ; Teleangiectasia of the skin ; Spotty hypopigmentation ; Intellectual disability ;
BRAF Cardiofaciocutaneous syndrome 7q34 Deep philtrum ; Myopia ; Delayed skeletal maturation ; Downslanted palpebral fissures ; Hearing impairment ; Narrow forehead ; Premature birth ; Progressive visual loss ; Splenomegaly ; Short nose ; Gastroesophageal reflux ; Epicanthus ; Pectus excavatum ; Constipation ; Multiple palmar creases ; Tongue thrusting ; High palate ; Micrognathia ; Multiple lentigines ; Nystagmus ; Seizures ; Posteriorly rotated ears ; Vomiting ; Open mouth ; Hydrocephalus ; Dolichocephaly ; Ichthyosis ; Oculomotor apraxia ; Polyhydramnios ; Hyperkeratosis ; Submucous cleft hard palate ; Anteverted nares ; Hyperextensibility of the finger joints ; Feeding difficulties in infancy ; Cavernous hemangioma ; Failure to thrive ; Pulmonic stenosis ; Underdeveloped supraorbital ridges ; Atopic dermatitis ; Anterior creases of earlobe ; Cerebral cortical atrophy ; Hypertelorism ; Defect in the atrial septum ; Short stature ; Absent eyebrow ; Absent eyelashes ; Clinodactyly of the 5th finger ; Open bite ; Osteopenia ; Muscular hypotonia ; Prominent forehead ; Dental malocclusion ; Hypertonia ; Sparse hair ; Optic nerve dysplasia ; Autosomal dominant inheritance ; Intellectual disability ; Hypoplasia of the frontal lobes ; Depressed nasal bridge ; Congenital onset ; Pectus carinatum ; SlowIntellectual disabilitygrowing hair ; Hypertrophic cardiomyopathy ; Multiple plantar creases ; Relative macrocephaly ; LowIntellectual disabilityset ears ; Coarse facial features ; Proptosis ; Ptosis ; Bulbous nose ; Curly hair ; Strabismus ; Aplasia/Hypoplasia of the corpus callosum ; Hydronephrosis ;
BRF1 Cerebellofaciodental syndrome 14q32.33 Scoliosis ; Microcephaly ; Sparse eyebrow ; Taurodontia ; Sparse hair ; Short stature ; Low-set ears ; Tapered finger ; Slender long bone ; Intellectual disability ; Short neck ; Macrodontia of permanent maxillary central incisor ; Dental malocclusion ; Global developmental delay ; Cerebellar hypoplasia ;
BRWD3 Mental retardation, X-linked 93 Xq21.1 Prominent forehead ; Cryptorchidism ; Delayed speech and language development ; Cupped ear ; Long face ; Muscular hypotonia ; Intellectual disability, mild ; Macrotia ; Frontal bossing ; Pes planus ; Macrocephaly ; XIntellectual disabilitylinked recessive inheritance ;
BRWD3 Mental retardation, X-linked 93 Xq21.1 Prominent forehead ; Cryptorchidism ; Delayed speech and language development ; Cupped ear ; Long face ; Muscular hypotonia ; Intellectual disability, mild ; Macrotia ; Frontal bossing ; Pes planus ; Macrocephaly ; X-linked recessive inheritance ;
BSCL2 Lipodystrophy, congenital generalized, type 2 (CGL2) 11q12.3 Cirrhosis ; Splenomegaly ; Hypertrophic cardiomyopathy ; Acute pancreatitis ; Decreased serum leptin ; Accelerated skeletal maturation ; Autosomal recessive inheritance ; Large hands ; Generalized muscular appearance from birth ; Congenital onset ; Polyphagia ; Hyperinsulinemia ; Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) ; Labial hypertrophy ; Mandibular prognathia ; Tall stature ; Hepatomegaly ; Polycystic ovaries ; Prominent umbilicus ; Lipodystrophy ; Umbilical hernia ; Long foot ; Insulin-resistant diabetes mellitus at puberty ; Hirsutism ; Intellectual disability, mild ; Hepatic steatosis ; Cystic angiomatosis of bone ; Hypertriglyceridemia ; Decreased fertility in females ; Clitoromegaly ; Acanthosis nigricans ; Decreased fertility ;
BSCL2 Neuropathy, distal hereditary motor, type V (HMN5A) 11q12.3 Thenar muscle weakness ; First dorsal interossei muscle atrophy ; Slow progression ; Thenar muscle atrophy ; Distal amyotrophy ; Cold-induced hand cramps ; Distal muscle weakness ; Autosomal dominant inheritance ; First dorsal interossei muscle weakness ; Onset ; Upper limb muscle weakness ; Thenar muscle weakness ; First dorsal interossei muscle atrophy ; Slow progression ; Thenar muscle atrophy ; Distal amyotrophy ; Cold-induced hand cramps ; Distal muscle weakness ; Autosomal dominant inheritance ; First dorsal interossei muscle weakness ; Onset ; Upper limb muscle weakness ; Intellectual disability ;
BSCL2 Silver spastic paraplegia syndrome (SPG17) 11q12.3 ; Intellectual disability ;
BSND Bartter syndrome, type 4a 1p32.3 Fetal polyuria ; Motor delay ; Global glomerulosclerosis ; Hyporeflexia ; Hypochloremia ; Reduced renal corticomedullary differentiation ; Heterogeneous ; Failure to thrive ; Decreased glomerular filtration rate ; Hyperaldosteronism ; Hyperchloridura ; Renal insufficiency ; Autosomal recessive inheritance ; Sensorineural hearing impairment ; Polyhydramnios ; Hypokalemic hypochloremic metabolic alkalosis ; Increased urinary potassium ; Muscular hypotonia ; Hypernatriuria ; Polyuria ; Premature birth ; Edema ; Renal salt wasting ; Tubulointerstitial fibrosis ; Hypokalemia ; Congenital onset ; Hyponatremia ; Intellectual disability ; Hydrops fetalis ;
BTD Biotinidase deficiency 7p21.1 Hearing impairment ; Splenomegaly ; Lethargy ; Apnea ; Skin rash ; Tachypnea ; Feeding difficulties in infancy ; Muscular hypotonia ; Seizures ; Diffuse cerebellar atrophy ; Incoordination ; Organic aciduria ; Alopecia ; Optic atrophy ; Dry skin ; Autosomal recessive inheritance ; Recurrent skin infections ; Global developmental delay ; Hyperammonemia ; Metabolic ketoacidosis ; Seborrheic dermatitis ; Hepatomegaly ; Sensorineural hearing impairment ; Diffuse cerebral atrophy ; Inflammatory abnormality of the eye ; Vomiting ; Conjunctivitis ; Ataxia ; Diarrhea ; Visual loss ; Intellectual disability ;
BTD Macrocephaly?megalencephaly syndrome 7p21.1 Intellectual disability ; Megalencephaly ; Optic atrophy ; Adrenal medullary hypoplasia ; Global developmental delay ; Dolichocephaly ; Broad forehead ; Mandibular prognathia ; Pointed chin ; Delayed speech and language development ; Coarse facial features ; Abnormality of the musculature ; Macrocephaly ;
BUB1B Mosaic variegated aneuploidy syndrome 1 15q15.1 Hypospadias ; Rhabdomyosarcoma ; Hypodysplasia of the corpus callosum ; Hydrocephalus ; Combined immunodeficiency ; Feeding difficulties in infancy ; Hypertelorism ; Oligohydramnios ; Triangular mouth ; Ventriculomegaly ; Ambiguous genitalia ; Short sternum ; LowIntellectual disabilityset ears ; DandyIntellectual disabilityWalker malformation ; Posteriorly rotated ears ; Anteverted nares ; Nephroblastoma (Wilms tumor) ; Generalized hypotonia ; Cataract ; High forehead ; Microcephaly ; Micrognathia ; Malar flattening ; Cerebellar hypoplasia ; Upslanted palpebral fissure ; Autosomal recessive inheritance ; Generalized tonicIntellectual disabilityclonic seizures ; Midface retrusion ; Generalized myoclonic seizures ; Micropenis ; Small for gestational age ; Cryptorchidism ; Epicanthus ; Phenotypic variability ; Intellectual disability, profound ; Depressed nasal bridge ; Bifid scrotum ; Brachycephaly ; Cerebral hypoplasia ; Wide nose ; Long philtrum ; Leukemia ; Premature chromatid separation ; Cleft palate ; Nystagmus ; Short stature ; Severe global developmental delay ; Short neck ; Postnatal growth retardation ; Agenesis of corpus callosum ; Intrauterine growth retardation ; Renal cyst ; Short nose ;
C12orf57 Temtamy syndrome 12p13.31 Genu varum ; Aortic regurgitation ; Agenesis of corpus callosum ; Long face ; Ventriculomegaly ; Brachydactyly syndrome ; Autosomal recessive inheritance ; Convex nasal ridge ; Cognitive impairment ; Hip dislocation ; Seizures ; Muscular hypotonia ; Myopia ; Chorioretinal coloboma ; Iris coloboma ; Macrocephaly ; Coarse facial features ; Dental crowding ; Pes planus ; Aplasia/Hypoplasia of the corpus callosum ; Dolichocephaly ; Aortic dilatation ; Downslanted palpebral fissures ; Short toe ; Long philtrum ; Hypertelorism ; Frontal bossing ; Ectopia lentis ; Intellectual disability, mild ; Low-set ears ; Low-set, posteriorly rotated ears ; Hypoplasia of teeth ; Infantile onset ; Short 2nd toe ; Global developmental delay ; Micrognathia ; Lop ear ; Highly arched eyebrow ; Talipes equinovarus ;
C12orf65 Spastic paraplegia 55, autosomal recessive 12q24.31 Onion bulb formation ; Autosomal recessive inheritance ; Peripheral axonal neuropathy ; Visual impairment ; Distal sensory impairment ; Central scotoma ; Variable expressivity ; Optic atrophy ; Cognitive impairment ; Strabismus ; Babinski sign ; Talipes equinovarus ; Steppage gait ; Spastic paraplegia ; Clonus ; Difficulty walking ; Intellectual disability ;
C2CD3 Orofaciodigital syndrome XIV 11q13.4 Telecanthus ; Micropenis ; Cleft palate ; Lobulated tongue ; Absent speech ; Upslanted palpebral fissure ; Trigonocephaly ; Microcephaly ; Abnormal facial shape ; Molar tooth sign on MRI ; Intellectual disability ; Increased number of teeth ; Postaxial polydactyly ; Hypoplasia of the corpus callosum ;
CA8 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 8q12.1 Congenital onset ; Ataxia ; Intellectual disability, mild ; Strabismus ; Slurred speech ; Tremor ; Dysarthria ; Autosomal recessive inheritance ;
CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation 1p36.31-p36.23 Dysarthria ; Anteverted nares ; Bulbous nose ; Pointed chin ; Long philtrum ; Autosomal dominant inheritance ; Intellectual disability, mild ; Long face ; Dysmetria ; Neonatal hypotonia ; Global developmental delay ; Delayed speech and language development ; Unsteady gait ; Thick lower lip vermilion ;
CANT1 Desbuquois dysplasia 1 17q25.3 Brachydactyly syndrome ; Autosomal recessive inheritance ; Short femoral neck ; Microretrognathia ; Motor delay ; Hyperlordosis ; Pes planus ; Osteoarthritis ; Short nose ; Narrow mouth ; Joint laxity ; Obesity ; Partial duplication of the distal phalanx of the hallux ; Coxa valga ; Flattened epiphysis ; Talipes equinovarus ; Scoliosis ; Coxa vara ; Proximal fibular overgrowth ; Severe short stature ; Metaphyseal widening ; Sandal gap ; Myopia ; Phalangeal dislocation ; Variable expressivity ; Narrow chest ; Round face ; Broad femoral neck ; Advanced ossification of carpal bones ; Flat acetabular roof ; Platyspondyly ; Genu varum ; Short neck ; Bifid distal phalanx of the thumb ; Intellectual disability ; Short 1st metacarpal ; Congenital glaucoma ; Depressed nasal bridge ; Short metatarsal ; Radioulnar dislocation ; Waddling gait ; Muscular hypotonia ; Kyphosis ; Disproportionate shortIntellectual disabilitylimb short stature ; Medial deviation of the foot ; Malar flattening ; Broad first metatarsal ; Osteoporosis ; Proptosis ; Advanced tarsal ossification ; Midface retrusion ;
CASC5 Microcephaly 4, primary, autosomal recessive 15q15.1 Aggressive behavior ; Autosomal recessive inheritance ; Microcephaly ; Intellectual disability ; Impulsivity ; Bimanual synkinesia ;
CASK Mental retardation and microcephaly with pontine and cerebellar hypoplasia Xp11.4 Microcephaly ; Sensorineural hearing impairment ; Hypertelorism ; High palate ; Short stature ; Seizures ; Short nose ; Long philtrum ; Strabismus ; Macrotia ; Cognitive impairment ; Muscle weakness ; Hypohidrosis ; Oval face ; Dilated fourth ventricle ; Broad nasal tip ; Epicanthus ; Myopia ; Nystagmus ; Cerebral cortical atrophy ; Spasticity ; Aplasia/Hypoplasia of the cerebellum ; Cerebellar hypoplasia ; Visual impairment ; Micrognathia ; Abnormality of the nose ; XIntellectual disabilitylinked dominant inheritance ; Prominent nasal bridge ; Hyperreflexia ; Generalized hypotonia ; Global developmental delay ; Broad forehead ; Decreased body weight ; Muscular hypotonia of the trunk ; Cataract ; Intellectual disability, moderate ; Gait disturbance ; Large eyes ; Absent speech ; Postnatal growth retardation ; Wide nasal bridge ;
CASK Mental retardation and microcephaly with pontine and cerebellar hypoplasia Xp11.4 Microcephaly ; Sensorineural hearing impairment ; Hypertelorism ; High palate ; Short stature ; Seizures ; Short nose ; Long philtrum ; Strabismus ; Macrotia ; Cognitive impairment ; Muscle weakness ; Hypohidrosis ; Oval face ; Dilated fourth ventricle ; Broad nasal tip ; Epicanthus ; Myopia ; Nystagmus ; Cerebral cortical atrophy ; Spasticity ; Aplasia/Hypoplasia of the cerebellum ; Cerebellar hypoplasia ; Visual impairment ; Micrognathia ; Abnormality of the nose ; X-linked dominant inheritance ; Prominent nasal bridge ; Hyperreflexia ; Generalized hypotonia ; Global developmental delay ; Broad forehead ; Decreased body weight ; Muscular hypotonia of the trunk ; Cataract ; Intellectual disability, moderate ; Gait disturbance ; Large eyes ; Absent speech ; Postnatal growth retardation ; Wide nasal bridge ;
CASK Mental retardation, with or without nystagmus Xp11.4 Feeding difficulties in infancy ; Global developmental delay ; Wide nasal bridge ; Sensorineural hearing impairment ; XIntellectual disabilitylinked inheritance ; Seizures ; Intellectual disability ; Neonatal hypotonia ; Hypertelorism ;
CASK Mental retardation, with or without nystagmus Xp11.4 Feeding difficulties in infancy ; Global developmental delay ; Wide nasal bridge ; Sensorineural hearing impairment ; X-linked inheritance ; Seizures ; Intellectual disability ; Neonatal hypotonia ; Hypertelorism ;
CBL Noonan syndrome?like disorder with or without juvenile myelomonocytic leukemia (NSLL) 11q23.3 Sparse hair ; Juvenile myelomonocytic leukemia ; Posteriorly rotated ears ; Pectus excavatum ; Depressed nasal bridge ; Macrotia ; Wide intermamillary distance ; Deep philtrum ; Joint hypermobility ; Hypertelorism ; Triangular face ; Bicuspid aortic valve ; Low-set ears ; Epicanthus ; Autosomal dominant inheritance ; Mitral regurgitation ; Global developmental delay ; Aortic valve stenosis ; Ptosis ; Short neck ; Intellectual disability ;
CBS Homocystinuria, B6-responsive and nonresponsive types 21q22.3 Cognitive impairment ; Generalized osteoporosis ; Thrombophlebitis ; Myopia ; Ectopia lentis ; Visual impairment ; Disproportionate tall stature ; Thromboembolism ; Mitral valve prolapse ; Abnormality of the teeth ; Glaucoma ; Hepatic steatosis ; Arachnodactyly ; Limitation of joint mobility ; Personality disorder ; Hypopigmentation of the skin ; Dental crowding ; Pectus carinatum ; Abnormal hair quantity ; Scoliosis ; Pancreatitis ; Homocystinuria ; Myocardial infarction ; High palate ; Hypertension ; Genu valgum ; Stroke ; Seizures ; Intellectual disability ; Inguinal hernia ; Pulmonary embolism ; Arteriovenous malformation ; Kyphosis ; Recurrent fractures ; Cerebral ischemia ; Kyphoscoliosis ; Autosomal recessive inheritance ; Brittle hair ; Cutis marmorata ; Biconcave vertebral bodies ; Pectus excavatum ; Reduced bone mineral density ; Arterial thrombosis ;
CC2D2A COACH syndrome 4p15.32 Incoordination ; Narrow forehead ; Feeding difficulties in infancy ; Hypertelorism ; Intellectual disability, moderate ; Chorioretinal coloboma ; Renal insufficiency ; Oculomotor apraxia ; Infantile onset ; Growth delay ; Ataxia ; Iris coloboma ; Biliary tract abnormality ; Visual impairment ; Congenital hepatic fibrosis ; Muscular hypotonia ; Occipital encephalocele ; Nephropathy ; Ptosis ; Aplasia/Hypoplasia of the cerebellum ; Heterogeneous ; Global developmental delay ; Nystagmus ; Round face ; Cerebellar vermis hypoplasia ; Apnea ; Autosomal recessive inheritance ; Molar tooth sign on MRI ; Coloboma ; Postaxial hand polydactyly ; Gait disturbance ; Hepatomegaly ; Wide mouth ; Hepatic fibrosis ; Spasticity ; Cognitive impairment ; Portal hypertension ; Hyperreflexia ; Anteverted nares ; Optic nerve coloboma ; Elevated hepatic transaminases ; Multiple small medullary renal cysts ; Nephronophthisis ; Long face ; Splenomegaly ; Cirrhosis ;
CC2D2A Joubert syndrome 9 4p15.32 RodIntellectual disabilitycone dystrophy ; Astigmatism ; Autosomal recessive inheritance ; Intellectual disability ; Molar tooth sign on MRI ; Ventriculomegaly ; Nystagmus ; Cataract ;
CCBE1 Hennekam lymphangiectasia-lymphedema syndrome 1 18q21.32 Oligodontia ; Hypoalbuminemia ; Hyperactivity ; Vesicoureteral reflux ; Small hand ; Intestinal lymphangiectasia ; Pleural lymphangiectasia ; Hypertelorism ; Erysipelas ; Wide nasal bridge ; LowIntellectual disabilityset ears ; Pericardial lymphangiectasia ; Malar flattening ; Smooth philtrum ; ProteinIntellectual disabilitylosing enteropathy ; Periorbital edema ; Pachygyria ; Pericardial effusion ; Depressed nasal bridge ; Autosomal recessive inheritance ; Rectal prolapse ; Short palm ; Spina bifida occulta ; Camptodactyly ; Lymphedema ; Narrow palate ; Joint contracture of the hand ; Thyroid lymphangiectasia ; Defect in the atrial septum ; Broad forehead ; Hirsutism ; Umbilical hernia ; Scoliosis ; Ventricular septal defect ; Coronal craniosynostosis ; Pectus excavatum ; Bilateral single transverse palmar creases ; Talipes equinovarus ; Hydronephrosis ; Pleural effusion ; Sensorineural hearing impairment ; Delayed eruption of teeth ; Short foot ; Flat face ; Narrow mouth ; Cryptorchidism ; Epicanthus ; Intellectual disability ; Ectopic kidney ; Cutaneous finger syndactyly ; Delayed skeletal maturation ; Horseshoe kidney ; Mild postnatal growth retardation ; Gingival overgrowth ; Conical incisor ; Seizures ; Conductive hearing impairment ; Hypoplastic iliac wing ; Glaucoma ; Retrognathia ;
CCDC88C Hydrocephalus, nonsyndromic, autosomal recessive 14q32.11-q32.12 Intellectual disability ; Seizures ; Autosomal recessive inheritance ; Ventriculomegaly ; Hydrocephalus ; Congenital onset ;
CD96 C syndrome 3q13.13-q13.2 Anteverted nares ; LowIntellectual disabilityset ears ; Strabismus ; Clinodactyly ; Muscular hypotonia ; Ulnar deviation of finger ; Narrow forehead ; Postaxial foot polydactyly ; Micromelia ; Short metacarpal ; Scoliosis ; Cognitive impairment ; Radial deviation of finger ; Trigonocephaly ; Epicanthus ; Renal cortical cysts ; Postaxial hand polydactyly ; Seizures ; Limitation of joint mobility ; Thin vermilion border ; Failure to thrive ; Fused sternal ossification centers ; Dislocated radial head ; High palate ; Upslanted palpebral fissure ; Short stature ; Short nose ; Patent ductus arteriosus ; Toe syndactyly ; Global developmental delay ; Ventricular septal defect ; Talipes ; Cryptorchidism ; Micrognathia ; Single transverse palmar crease ; Omphalocele ; Accessory oral frenulum ; Hepatomegaly ; Microcephaly ; Pectus excavatum ; Abnormality of immune system physiology ; Urogenital fistula ; Cutis laxa ; Short neck ; Hypoplasia of the ear cartilage ; Joint dislocation ; LowIntellectual disabilityset, posteriorly rotated ears ; Sacral dimple ; Female pseudohermaphroditism ; Clinodactyly of the 5th finger ; Wide nasal bridge ; Autosomal recessive inheritance ; Depressed nasal bridge ; Clitoromegaly ; Posteriorly rotated ears ; Hip dislocation ; Delayed skeletal maturation ; Wide mouth ; Gingival overgrowth ; Thick anterior alveolar ridges ; Malformation of the heart and great vessels ; Long philtrum ;
CDH15 Mental retardation, autosomal dominant 3 16q24.3 Autosomal dominant inheritance ; Intellectual disability ;
CDK5RAP2 Microcephaly 3, primary, autosomal recessive 9q33.2 Sloping forehead ; Intellectual disability, moderate ; Global developmental delay ; Autosomal recessive inheritance ; Small cerebral cortex ; Microcephaly ;
CDK6 Microcephaly 12, primary, autosomal recessive 7q21.2 Intellectual disability ; Cortical gyral simplification ; Sloping forehead ; Microcephaly ;
CDKL5 Epileptic encephalopathy, early infantile, 2 Xp22.13 Generalized myoclonic seizures ; Constipation ; Developmental regression ; Short palm ; Thick lower lip vermilion ; Inability to walk ; Gastroesophageal reflux ; Poor eye contact ; Prominent forehead ; Small hand ; Progressive microcephaly ; Epileptic encephalopathy ; Infantile spasms ; Myoclonus ; Infantile onset ; Anteverted nares ; Muscular hypotonia ; Scoliosis ; Tapered finger ; Broad forehead ; Deeply set eye ; Hyperventilation ; XIntellectual disabilitylinked dominant inheritance ; Stereotypic behavior ; Global developmental delay ; Intellectual disability, profound ; Hypsarrhythmia ; Short foot ;
CDON Holoprosencephaly 11 (HPE11) 11q24.2 Global developmental delay ; Synophrys ; Agenesis of corpus callosum ; Hypotelorism ; Autosomal dominant inheritance ; Microcephaly ; Holoprosencephaly ; Intellectual disability ;
CDT1 Meier-Gorlin syndrome 4 16q24.3 Patellar aplasia ; Narrow mouth ; Intrauterine growth retardation ; Delayed skeletal maturation ; LowIntellectual disabilityset ears ; Autosomal recessive inheritance ; Hypoplasia of the maxilla ; Lateral clavicle hook ; Birth length less than 3rd percentile ; Cryptorchidism ; Genu recurvatum ; Thick lower lip vermilion ; Microcephaly ; Breast hypoplasia ; Failure to thrive ; Feeding difficulties ; Micrognathia ; Slender long bone ; Emphysema ; Microtia ;
CENPJ Microcephaly 6, primary, autosomal recessive 13q12.12-q12.13 Microcephaly ; Heterogeneous ; Congenital onset ; Intellectual disability, moderate ; Autosomal recessive inheritance ; Small cerebral cortex ;
CENPJ ?Seckel syndrome 4 13q12.12-q12.13 Underdeveloped nasal alae ; Intrauterine growth retardation ; Short stature ; Retrognathia ; Autosomal recessive inheritance ; High forehead ; Decreased body weight ; LowIntellectual disabilityset ears ; Steep acetabular roof ; Microcephaly ;
CEP135 Microcephaly 8, primary, autosomal recessive (MCPH8) 4q12 Sloping forehead ; Intellectual disability, severe ; Retrognathia ; Microcephaly ; Congenital onset ; Autosomal recessive inheritance ;
CEP152 Microcephaly 9, primary, autosomal recessive 15q21.1 Bimanual synkinesia ; Cortical gyral simplification ; Impulsivity ; Aggressive behavior ; Autosomal recessive inheritance ; Microcephaly ; Intellectual disability ;
CEP152 Seckel syndrome 5 15q21.1 Sloping forehead ; Prominent nasal bridge ; Retrognathia ; Microcephaly ; Abnormal cortical gyration ; Autosomal recessive inheritance ; Large beaked nose ; Intellectual disability ;
CEP290 Bardet?Biedl syndrome 14 (BBS14) 12q21.32 Global developmental delay ; Intellectual disability ; Rod-cone dystrophy ; Obesity ;
CEP290 Joubert syndrome 5 (JBTS5) 12q21.32 Neonatal breathing dysregulation ; Muscular hypotonia ; Tapetoretinal degeneration ; Episodic tachypnea ; Agenesis of cerebellar vermis ; Aplasia/Hypoplasia of the cerebellar vermis ; Central apnea ; Nystagmus ; Autosomal recessive inheritance ; Retinal coloboma ; Nephronophthisis ; Renal cortical cysts ; Ataxia ; Thickened superior cerebellar peduncle ; Molar tooth sign on MRI ; Stage 5 chronic kidney disease ; Oculomotor apraxia ; Impaired renal concentrating ability ; Intellectual disability ; Congenital blindness ;
CEP290 Leber congenital amaurosis 10 (LCA10) 12q21.32 Hyposmia ; Seizures ; Visual impairment ; Autosomal recessive inheritance ; Intellectual disability ;
CEP290 Meckel syndrome 4 (MKS4) 12q21.32 Encephalocele ; Postaxial hand polydactyly ; Ventricular septal defect ; Intrauterine growth retardation ; Hypoplasia of the corpus callosum ; Defect in the atrial septum ; Agenesis of cerebellar vermis ; Renal cyst ; Autosomal recessive inheritance ; Dandy-Walker malformation ; Bile duct proliferation ; Intellectual disability ;
CEP290 Senior-Loken syndrome 6 (SLSN6) 12q21.32 ; Intellectual disability ;
CERS1 Epilepsy, progressive myoclonic, 8 19p13.11 Generalized tonic-clonic seizures ; Intellectual disability ; Dementia ;
CHAMP1 intellectual disability with severe speech impairment 13q34 Intellectual disability ;
CHAMP1 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 13q34 Intellectual disability ;
CHD2 Epileptic encephalopathy, childhood?onset (EEOC) 21q22.2 Epileptic encephalopathy ; Absence seizures ; EEG abnormality ; Intellectual disability ; Developmental regression ; Generalized myoclonic seizures ; Global developmental delay ; Febrile seizures ; Status epilepticus ; Autosomal dominant inheritance ; Atonic seizures ;
CHD7 CHARGE syndrome 8q12.2 Sporadic ; Defect in the atrial septum ; Abnormality of female external genitalia ; Attention deficit hyperactivity disorder ; Hydronephrosis ; Pulmonic stenosis ; Glaucoma ; Patent ductus arteriosus ; Autosomal dominant inheritance ; Abnormality of the sense of smell ; Bifid scrotum ; Retinal detachment ; Short stature ; Otitis media ; Cryptorchidism ; Optic nerve coloboma ; Ventricular septal defect ; Muscular hypotonia ; Scoliosis ; Facial palsy ; Aplasia/Hypoplasia of the earlobes ; Cupped ear ; Iris coloboma ; Macrotia ; Delayed eruption of teeth ; Hypoplasia of the ear cartilage ; Double outlet right ventricle ; Narrow face ; Hypocalcemia ; Retinal coloboma ; Feeding difficulties ; Broad columella ; Nystagmus ; Incoordination ; Gonadotropin deficiency ; Overfolded helix ; Malar flattening ; Hypothyroidism ; External ear malformation ; Anosmia ; Visual impairment ; Polyhydramnios ; Dysphagia ; LowIntellectual disabilityset, posteriorly rotated ears ; Facial asymmetry ; Abnormality of the aorta ; Micropenis ; Mixed hearing impairment ; Tetralogy of Fallot ; Choanal atresia ; Aplasia/Hypoplasia of the thymus ; Feeding difficulties in infancy ; Posterior choanal atresia ; Labial hypoplasia ; Esophageal atresia ; Duodenal atresia ; Hearing impairment ; Cognitive impairment ; Lop ear ; Retinopathy ; Abnormality of the palpebral fissures ; Phenotypic variability ; Postnatal growth retardation ; Umbilical hernia ; Hypoplasia of penis ; Chorioretinal coloboma ; Delayed puberty ; Abnormality of the soft palate ; Strabismus ; Autism ; Anterior hypopituitarism ; Square face ; Narrow mouth ; Microtia ; Microphthalmos ; Optic atrophy ; Parathyroid hypoplasia ; Downslanted palpebral fissures ; Chin dimple ; Abnormality of the antihelix ; Lymphopenia ; Sinusitis ; Abnormality of the inner ear ; Anophthalmia ; Neurological speech impairment ; Respiratory insufficiency ; Intellectual disability ; Horseshoe kidney ;
CHD8 {Autism, susceptibility to, 18} 14q11.2 Intellectual disability ;
CHKB Muscular dystrophy, congenital, megaconial type (MDCMC) 22q13.33 Congenital onset ; Seizures ; Facial palsy ; Autosomal recessive inheritance ; Dilated cardiomyopathy ; Delayed speech and language development ; Elevated serum creatine phosphokinase ; Microcephaly ; Neonatal hypotonia ; Congenital muscular dystrophy ; Ichthyosis ; Intellectual disability ; Slow progression ; Waddling gait ; Gowers sign ; Mitochondrial inheritance ; Poor speech ; Myopathy ; Motor delay ;
CHMP1A Pontocerebellar hypoplasia, type 8 16q24.3 Esotropia ; Pes cavus ; Myopia ; Absent speech ; Talipes valgus ; Astigmatism ; Global developmental delay ; Hypermetropia ; Hyperreflexia ; Hypoplasia of the brainstem ; Poor speech ; Congenital onset ; Intellectual disability ; Autosomal recessive inheritance ; Postnatal microcephaly ; Talipes equinovarus ; Hypoplasia of the corpus callosum ; Spasticity ; Cerebellar hypoplasia ; Chorea ; Muscular hypotonia of the trunk ;
CKAP2L Filippi syndrome 2q14.1 Short philtrum ; Cryptorchidism ; Proptosis ; Delayed skeletal maturation ; Neurological speech impairment ; Single transverse palmar crease ; Prominent nasal bridge ; Intellectual disability ; Finger syndactyly ; Microcephaly ; Underdeveloped nasal alae ; Dystonia ; Decreased body weight ; Seizures ; Broad forehead ; Cerebellar atrophy ; 2-4 toe syndactyly ; Clinodactyly of the 5th finger ; Intrauterine growth retardation ; Ventricular septal defect ; Wide nasal bridge ; Thin vermilion border ; Visual impairment ; Optic atrophy ; Autosomal recessive inheritance ; Microdontia ; Postnatal growth retardation ; Frontal bossing ; Cognitive impairment ; Short stature ;
CLCN4 Mental retardation, X-linked 49/15 Xp22.2 - ;
CLCNKA Bartter syndrome, type 4b, digenic 1p36.13 Decreased glomerular filtration rate ; Premature birth ; Renal insufficiency ; Hypochloremia ; Increased urinary potassium ; Hyporeflexia ; Hypokalemia ; Failure to thrive ; Polyuria ; Fetal polyuria ; Polyhydramnios ; Hypernatriuria ; Hypokalemic hypochloremic metabolic alkalosis ; Congenital onset ; Hyperchloridura ; Edema ; Motor delay ; Hyperaldosteronism ; Hyponatremia ; Intellectual disability ; Muscular hypotonia ; Sensorineural hearing impairment ; Renal salt wasting ; Heterogeneous ; Decreased glomerular filtration rate ; Premature birth ; Renal insufficiency ; Hypochloremia ; Increased urinary potassium ; Hyporeflexia ; Hypokalemia ; Failure to thrive ; Polyuria ; Fetal polyuria ; Polyhydramnios ; Hypernatriuria ; Hypokalemic hypochloremic metabolic alkalosis ; Congenital onset ; Hyperchloridura ; Edema ; Motor delay ; Hyperaldosteronism ; Hyponatremia ; Intellectual disability ; Muscular hypotonia ; Sensorineural hearing impairment ; Renal salt wasting ; Heterogeneous ;
CLCNKB Bartter syndrome, type 3 1p36.13 Abnormality of the retinal vasculature ; Hyperactive reninIntellectual disabilityangiotensin system ; Hypotension ; Abnormality of the choroid ; Hypokalemic metabolic alkalosis ; Dehydration ; Generalized muscle weakness ; Polyuria ; Renal salt wasting ; Hyperchloridura ; Hyperaldosteronism ; Hypokalemia ; Increased circulating renin level ; Autosomal recessive inheritance ; Abnormality of the sclera ; Increased urinary potassium ; Impaired reabsorption of chloride ; Renal potassium wasting ;
CLIC2 ?Mental retardation, X-linked, syndromic 32 Xq28 Intellectual disability, profound ; Contractures of the large joints ; Global developmental delay ; Cardiomegaly ; Absent speech ; Macrotia ; Congestive heart failure ; XIntellectual disabilitylinked recessive inheritance ; Macroorchidism ; Seizures ;
CLIC2 ?Mental retardation, X-linked, syndromic 32 Xq28 Intellectual disability, profound ; Contractures of the large joints ; Global developmental delay ; Cardiomegaly ; Absent speech ; Macrotia ; Congestive heart failure ; X-linked recessive inheritance ; Macroorchidism ; Seizures ;
CLN3 Ceroid lipofuscinosis, neuronal, 3 16p12.1 Undetectable electroretinogram ; Rod-cone dystrophy ; Increased extraneuronal autofluorescent lipopigment ; Psychomotor deterioration ; Abnormality of the cerebellum ; Cerebral atrophy ; Dysarthria ; Curvilinear intracellular accumulation of autofluorescent lipopigment storage material ; Seizures ; Fingerprint intracellular accumulation of autofluorescent lipopigment storage material ; Macular degeneration ; Progressive inability to walk ; Optic atrophy ; Anxiety ; Vacuolated lymphocytes ; Autosomal recessive inheritance ; Blindness ; Dementia ; Parkinsonism ; Myoclonus ; Progressive visual loss ; Increased neuronal autofluorescent lipopigment ; Psychosis ; Intellectual disability ;
CLN5 Ceroid lipofuscinosis, neuronal, 5 13q22.3 Myoclonus ; Developmental regression ; Autosomal recessive inheritance ; Progressive visual loss ; Retinal degeneration ; Intellectual disability ; Curvilinear intracellular accumulation of autofluorescent lipopigment storage material ; Fingerprint intracellular accumulation of autofluorescent lipopigment storage material ; Rectilinear intracellular accumulation of autofluorescent lipopigment storage material ; Seizures ; Motor deterioration ; Abnormal nervous system electrophysiology ; Increased neuronal autofluorescent lipopigment ; Clumsiness ;
CLN6 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 15q23 Increased neuronal autofluorescent lipopigment ; Seizures ; Leukoencephalopathy ; Adult onset ; Myoclonus ; Ataxia ; Curvilinear intracellular accumulation of autofluorescent lipopigment storage material ; Cerebral atrophy ; Dementia ; Abnormality of extrapyramidal motor function ; Autosomal recessive inheritance ; Auditory hallucinations ; Granular osmiophilic deposits (GROD) in cells ; Rectilinear intracellular accumulation of autofluorescent lipopigment storage material ; Fingerprint intracellular accumulation of autofluorescent lipopigment storage material ; Visual hallucinations ; Depression ; Intellectual disability ;
CLN8 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 8p23.3 Visual impairment ; Restlessness ; Generalized tonicIntellectual disabilityclonic seizures ; Mental deterioration ; Increased neuronal autofluorescent lipopigment ; EEG abnormality ; Irritability ; Cerebellar atrophy ; Autosomal recessive inheritance ; Intellectual disability ; Clumsiness ; Slow progression ; Seizures ; Focal seizures with impairment of consciousness or awareness ; Cerebral atrophy ; Curvilinear intracellular accumulation of autofluorescent lipopigment storage material ;
CLPB 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia 11q13.4 Global developmental delay ; Cerebellar atrophy ; Spasticity ; Microcephaly ; Abnormal pyramidal signs ; Cataract ; Intellectual disability ; Feeding difficulties ; Cerebral atrophy ; Muscular hypotonia ; Neutropenia ; Growth delay ; Abnormality of extrapyramidal motor function ;
CNNM2 Hypomagnesemia 6, renal 10q24.32 Muscle weakness ; Vertigo ; Autosomal dominant inheritance ; Hypomagnesemia ; Headache ; Intellectual disability ;
CNNM2 Hypomagnesemia, seizures, and mental retardation 10q24.32 Global developmental delay ; Seizures ; Intellectual disability ; Microcephaly ;
CNTNAP2 {Autism susceptibility 15} 7q35-q36.1 Intellectual disability ;
CNTNAP2 Pitt-Hopkins like syndrome 1 7q35-q36.1 Delayed gross motor development ; Progressive language deterioration ; Seizures ; Impaired social interactions ; Intellectual disability ; Reduced tendon reflexes ; Hyperactivity ; Cortical dysplasia ;
COA3 Mitochondrial complex IV deficiency 17q21.2 Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ; Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ; Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ; Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ; Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ; Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ; Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ; Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ; Optic atrophy ; Ataxia ; Glycosuria ; Autosomal recessive inheritance ; Global developmental delay ; Sensorineural hearing impairment ; Lactic acidosis ; Motor delay ; Ptosis ; Renal tubular dysfunction ; Increased serum lactate ; Anemia ; Increased intramyocellular lipid droplets ; Muscular hypotonia ; Proteinuria ; Renal Fanconi syndrome ; Hepatomegaly ; Hyperphosphaturia ; Failure to thrive ; Exertional dyspnea ; Pigmentary retinopathy ; Respiratory insufficiency due to muscle weakness ; Aminoaciduria ; Mitochondrial inheritance ; Increased CSF lactate ; Respiratory difficulties ; Exercise intolerance ; Seizures ; Increased hepatocellular lipid droplets ; Decreased activity of cytochrome C oxidase in muscle tissue ; Hypertrophic cardiomyopathy ; Intellectual disability ; Decreased liver function ;
COG6 Congenital disorder of glycosylation, type 2l 13q14.11 Type II transferrin isoform profile ; Microcephaly ; Congenital onset ; Seizures ; Death in infancy ; Global developmental delay ; Loss of consciousness ; Autosomal recessive inheritance ; Failure to thrive ; Intellectual disability ;
COG8 Congenital disorder of glycosylation, type IIh 16q22.1 Intellectual disability ; Alternating esotropia ; Cerebellar atrophy ; Status epilepticus ; Autosomal recessive inheritance ; Elevated serum creatine phosphokinase ; Ventriculomegaly ; Encephalopathy ; Elevated serum transaminases during infections ; Muscular hypotonia ;
COL11A2 Macrocephaly?megalencephaly syndrome 6p21.32 Intellectual disability ; Megalencephaly ; Optic atrophy ; Adrenal medullary hypoplasia ; Global developmental delay ; Dolichocephaly ; Broad forehead ; Mandibular prognathia ; Pointed chin ; Delayed speech and language development ; Coarse facial features ; Abnormality of the musculature ; Macrocephaly ;
COL4A1 Porencephaly 1 (POREN1) 13q34 Intellectual disability ; Spasticity ; Seizures ; Tetraparesis ; Porencephaly ; Elevated serum creatine phosphokinase ; Variable expressivity ; Babinski sign ; Hydrocephalus ; Schizencephaly ; Limb dystonia ; Leukoencephalopathy ; Exotropia ; Autosomal dominant inheritance ; Hemolytic anemia ; Hemiplegia ; Visual field defect ; Ischemic stroke ; Cerebellar atrophy ;
COL4A2 Porencephaly 2 (POREN2) 13q34 Hemiplegia ; Variable expressivity ; Spasticity ; Global developmental delay ; Autosomal dominant inheritance ; Incomplete penetrance ; Porencephaly ; Ventriculomegaly ; Seizures ; Intracranial hemorrhage ; Intellectual disability ;
COL4A5 Alport syndrome Xq22.3 XIntellectual disabilitylinked dominant inheritance ; Progressive ; Diffuse glomerular basement membrane lamellation ; Nephrotic syndrome ; Diffuse leiomyomatosis ; Ichthyosis ; Proteinuria ; Nephritis ; Sensorineural hearing impairment ; Anterior lenticonus ; Hypoparathyroidism ; Heterogeneous ; Thrombocytopenia ; Myopia ; Microscopic hematuria ; Congenital cataract ; Corneal erosion ; Stage 5 chronic kidney disease ; Hypertension ;
COLEC11 3MC syndrome 2 2p25.3 Abnormality of the vertebrae ; Limited elbow movement ; Premaxillary Prominence ; Wide nasal bridge ; Postnatal growth retardation ; Cleft palate ; Hip dislocation ; Hypertelorism ; Strabismus ; Depressed nasal tip ; Blepharophimosis ; Ptosis ; Craniosynostosis ; Broad philtrum ; Highly arched eyebrow ; Hypoplasia of the musculature ; Joint hypermobility ; Prominent nasal bridge ; Downturned corners of mouth ; Cryptorchidism ; Diastasis recti ; Broad forehead ; Autosomal recessive inheritance ; Downslanted palpebral fissures ; Epicanthus inversus ; Torticollis ; Global developmental delay ; Partial abdominal muscle agenesis ; Cleft upper lip ; Intellectual disability ;
COQ2