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Phenotypes
Ataxia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AAAS12q13.13100%gene with protein product605378Abnormality of visual evoked potentials; Achalasia; Adrenal insufficiency; Adrenocorticotropin receptor defect; Alacrima; Anisocoria; Ataxia; Autosomal recessive inheritance; Babinski sign; Childhood onset; Decreased circulating aldosterone level; Decreased circulating cortisol level; Dysarthria; Dysautonomia; Generalized hyperpigmentation; Global developmental delay; Hyperpigmentation of the skin; Hyperreflexia; Intellectual disability; Microcephaly; Motor axonal neuropathy; Muscle weakness; Optic atrophy; Orthostatic hypotension; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Progressive; Seizures; Short stature; Visual impairment
AARS26p21.1100%gene with protein product612035AARSLApraxia; Ataxia; Autosomal recessive inheritance; Death in infancy; Dementia; Depressivity; Dysarthria; Dystonia; EEG abnormality; Failure to thrive; Generalized muscle weakness; Hypertrophic cardiomyopathy; Increased serum lactate; Lactic acidosis; Loss of speech; Neurodegeneration; Nystagmus; Periventricular leukomalacia; Premature ovarian insufficiency; Progressive; Progressive leukoencephalopathy; Pulmonary hypoplasia; Spasticity; Tremor
ABCB7Xq13.399.99%gene with protein product300135ABC7Abnormality of metabolism/homeostasis; Abnormality of movement; Anemia; Ataxia; Babinski sign; Clonus; Dysarthria; Dysdiadochokinesis; Dysmetria; Global developmental delay; Hyperreflexia; Hypochromic microcytic anemia; Intention tremor; Juvenile onset; Neurological speech impairment; Nonprogressive cerebellar ataxia; Nystagmus; Sideroblastic anemia; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes
ABCC811p15.1100%gene with protein product600509SUR, HRINSAbnormal heart morphology; Abnormality of fatty-acid metabolism; Abnormality of the ear; Abnormality of the immune system; Abnormality of the pancreatic islet cells; Anteverted nares; Arthrogryposis multiplex congenita; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Coma; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Diarrhea; Downturned corners of mouth; Drowsiness; Elevated hemoglobin A1c; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperreflexia; Hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Insulin resistance; Intellectual disability; Intrauterine growth retardation; Irritability; Ketoacidosis; Ketonuria; Large for gestational age; Late onset; Lethargy; Limb joint contracture; Long philtrum; Microalbuminuria; Microcephaly; Mild global developmental delay; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal hypoglycemia; Neonatal insulin-dependent diabetes mellitus; Pallor; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Progressive neurologic deterioration; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Spasticity; Strabismus; Tachycardia; Transient neonatal diabetes mellitus; Type II diabetes mellitus; Vitamin B1 deficiency; Vomiting; Weight loss
ABHD53p21.33100%gene with protein product604780Abnormality of blood and blood-forming tissues; Alopecia; Ataxia; Autosomal recessive inheritance; Congenital nonbullous ichthyosiform erythroderma; Ectropion; Everted lower lip vermilion; Hepatic steatosis; Hepatomegaly; Intellectual disability; Microtia; Muscle weakness; Myopathy; Nystagmus; Sensorineural hearing impairment; Strabismus; Subcapsular cataractPalmoplantar keratoderma plus congenital ichthyosis
ACO222q13.2100%gene with protein product100850Areflexia; Ataxia; Athetosis; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral cortical atrophy; Demyelinating peripheral neuropathy; Failure to thrive; Generalized hypotonia; Hypoplasia of the corpus callosum; Hyporeflexia; Infantile onset; Intellectual disability, severe; Nystagmus; Optic atrophy; Paracentral scotoma; Progressive microcephaly; Red-green dyschromatopsia; Reduced visual acuity; Retinal dystrophy; Seizures; Severe global developmental delay; Strabismus; Visual impairment
ADA222q11.199.99%gene with protein productFormer name = CECR1607575IDGFL, CECR1Abdominal pain; Agitation; Amaurosis fugax; Antiphospholipid antibody positivity; Aphasia; Arterial stenosis; Arthritis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Behavioral abnormality; Cutis marmorata; Dementia; Developmental regression; Dilatation; Dysarthria; Elevated hepatic transaminases; Erythema nodosum; Facial palsy; Fever; Headache; Hemiparesis; Hemiplegia; Hepatomegaly; Hypertension; Immunodeficiency; Memory impairment; Mental deterioration; Migraine; Motor delay; Muscle weakness; Myalgia; Ophthalmoplegia; Panniculitis; Peripheral neuropathy; Progressive; Purpura; Raynaud phenomenon; Seizures; Splenomegaly; Sporadic; Stroke; Thromboembolic stroke; Tremor; Variable expressivity; Vertigo; Visual field defectAutoimmune Disorders
AHI16q23.399.99%gene with protein product608894Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Apnea; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Conductive hearing impairment; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Highly arched eyebrow; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Long face; Low-set ears; Molar tooth sign on MRI; Motor delay; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nystagmus; Obesity; Oculomotor apraxia; Open mouth; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Ptosis; Retinal dystrophy; Sensorineural hearing impairment; Stage 5 chronic kidney disease; Visual impairment; Wide nasal bridgeHeterotaxy
AHI16q23.399.99%gene with protein product608894Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Apnea; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Conductive hearing impairment; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Highly arched eyebrow; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Long face; Low-set ears; Molar tooth sign on MRI; Motor delay; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nystagmus; Obesity; Oculomotor apraxia; Open mouth; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Ptosis; Retinal dystrophy; Sensorineural hearing impairment; Stage 5 chronic kidney disease; Visual impairment; Wide nasal bridgeHeterotaxy
AHI16q23.399.99%gene with protein product608894Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Apnea; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Conductive hearing impairment; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Highly arched eyebrow; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Long face; Low-set ears; Molar tooth sign on MRI; Motor delay; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nystagmus; Obesity; Oculomotor apraxia; Open mouth; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Ptosis; Retinal dystrophy; Sensorineural hearing impairment; Stage 5 chronic kidney disease; Visual impairment; Wide nasal bridgeHeterotaxy
AKT114q32.3399.98%gene with protein product164730Abnormal form of the vertebral bodies; Abnormal lung lobation; Abnormal subcutaneous fat tissue distribution; Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system; Abnormality of the penis; Adenoma sebaceum; Adult onset; Angioid streaks of the fundus; Arteriovenous malformation; Asymmetry of the thorax; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Bronchogenic cyst; Cachexia; Calvarial hyperostosis; Capillary hemangiomas; Cataract; Cavernous hemangioma; Cognitive impairment; Colonic diverticula; Colorectal polyposis; Conjunctival hamartoma; Decreased muscle mass; Deep venous thrombosis; Depigmentation/hyperpigmentation of skin; Depressed nasal bridge; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Epibulbar dermoid; Epidermal acanthosis; Epidermal nevus; Facial hyperostosis; Fibroadenoma of the breast; Finger syndactyly; Furrowed tongue; Generalized hyperkeratosis; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hemihypertrophy; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; High palate; Hydrocele testis; Hyperkeratosis; Hypertelorism; Hyperthyroidism; Hypertrophy of skin of soles; Hypoplasia of the maxilla; Hypothyroidism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intention tremor; Irregular hyperpigmentation; Kyphoscoliosis; Kyphosis; Lipoma; Long face; Lower limb asymmetry; Lymphangioma; Lymphedema; Macrocephaly; Macrodactyly; Macroglossia; Macrotia; Macule; Mandibular hyperostosis; Melanocytic nevus; Meningioma; Micrognathia; Mucosal telangiectasiae; Multiple cafe-au-lait spots; Multiple lipomas; Myopia; Narrow mouth; Neoplasm of the stomach; Open mouth; Ovarian cyst; Ovarian papillary adenocarcinoma; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Progressive; Progressive macrocephaly; Ptosis; Pulmonary embolism; Renal cell carcinoma; Round face; Scoliosis; Seizures; Skeletal dysplasia; Skin tags; Somatic mutation; Spinal canal stenosis; Spinal cord compression; Splenomegaly; Sporadic; Subcutaneous lipoma; Subcutaneous nodule; Thin bony cortex; Thrombophlebitis; Thyroid adenoma; Thyroiditis; Transitional cell carcinoma of the bladder; Upper limb asymmetry; Uterine leiomyosarcoma; Varicocele; Vascular skin abnormality; Venous malformation; Visceral angiomatosis
ALDH5A16p22.3100%gene with protein product610045Abnormality of eye movement; Abnormality of metabolism/homeostasis; Absence seizures; Aggressive behavior; Anxiety; Ataxia; Autism; Autosomal recessive inheritance; Behavioral abnormality; Delayed speech and language development; EEG abnormality; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hallucinations; Hyperactivity; Hyperkinesis; Hyporeflexia; Infantile onset; Intellectual disability; Motor delay; Muscular hypotonia; Phenotypic variability; Psychosis; Self-injurious behavior; Status epilepticus
ALDH5A16p22.3100%gene with protein product610045Abnormality of eye movement; Abnormality of metabolism/homeostasis; Absence seizures; Aggressive behavior; Anxiety; Ataxia; Autism; Autosomal recessive inheritance; Behavioral abnormality; Delayed speech and language development; EEG abnormality; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hallucinations; Hyperactivity; Hyperkinesis; Hyporeflexia; Infantile onset; Intellectual disability; Motor delay; Muscular hypotonia; Phenotypic variability; Psychosis; Self-injurious behavior; Status epilepticus
ALG61p31.399.94%gene with protein product604566Areflexia; Ataxia; Autosomal recessive inheritance; Elevated serum transaminases during infections; Global developmental delay; Hepatic failure; Muscular hypotonia; Muscular hypotonia of the trunk; Reduced antithrombin III activity; Reduced factor XI activity; Seizures; Strabismus; Type I transferrin isoform profile
ANOS1Xp22.3199.48%gene with protein productformer name = KAL1300836KAL, ADMLX, KAL1Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Ataxia; Azoospermia; Bimanual synkinesia; Breast hypoplasia; Cryptorchidism; Decreased circulating follicle stimulating hormone level; Decreased circulating luteinizing hormone level; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Erectile abnormalities; Eunuchoid habitus; Female hypogonadism; Gynecomastia; High palate; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Increased female libido; Leydig cell insensitivity to gonadotropin; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Olfactory lobe agenesis; Osteopenia; Osteoporosis; Pes cavus; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Sparse body hair; Sparse pubic hair; Testicular atrophy; Unilateral renal agenesis; Wide intermamillary distance; X-linked recessive inheritanceDisorders of Sex Development; Male Infertility
AP5Z17p22.1100%gene with protein product613653KIAA0415Abnormality of the cervical spine; Abnormality of the periventricular white matter; Ataxia; Autosomal recessive inheritance; Broad-based gait; Cognitive impairment; Dysmetria; Elevated serum creatine phosphokinase; Global developmental delay; Hyperintensity of cerebral white matter on MRI; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability; Lower limb muscle weakness; Mental deterioration; Myoclonus; Parkinsonism; Peripheral neuropathy; Progressive; Progressive spastic paraplegia; Retinopathy; Spastic gait; Spastic paraplegia; Urinary bladder sphincter dysfunction; Urinary incontinence
APOB2p24.199.99%gene with protein product107730Abnormal internal carotid artery morphology; Acanthocytosis; Angina pectoris; Aortic atherosclerosis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral artery atherosclerosis; Corneal arcus; Coronary artery atherosclerosis; Decreased circulating low-density lipoprotein levels; Dyspnea; Heart murmur; Hepatic steatosis; Hypercholesterolemia; Hyperlipidemia; Hypertension; Increased circulating low-density lipoprotein levels; Left ventricular failure; Myocardial infarction; Myocardial steatosis; Peripheral arterial stenosis; Precocious atherosclerosis; Premature arteriosclerosis; Premature coronary artery atherosclerosis; Reduced tendon reflexes; Renal artery stenosis; Retinal degeneration; Sudden cardiac death; Xanthelasma
APOPT114q32.33100%gene with protein product616003C14orf153Abnormal pyramidal signs; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Delayed speech and language development; Developmental regression; Diffuse hepatic steatosis; Excessive daytime somnolence; Exercise intolerance; Exertional dyspnea; Failure to thrive; Fatigable weakness of swallowing muscles; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Progressive leukoencephalopathy; Progressive peripheral neuropathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Skeletal muscle steatosis
APOPT114q32.33100%gene with protein product616003C14orf153Abnormal pyramidal signs; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Delayed speech and language development; Developmental regression; Diffuse hepatic steatosis; Excessive daytime somnolence; Exercise intolerance; Exertional dyspnea; Failure to thrive; Fatigable weakness of swallowing muscles; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Progressive leukoencephalopathy; Progressive peripheral neuropathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Skeletal muscle steatosis
APTX9p21.1100%gene with protein product606350AXA1Adult onset; Areflexia; Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cognitive impairment; Decreased number of large peripheral myelinated nerve fibers; Dementia; Distal amyotrophy; Distal sensory impairment; Dysarthria; Dystonia; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Hypercholesterolemia; Hypoalbuminemia; Hypometric saccades; Hyporeflexia; Juvenile onset; Limb ataxia; Medial flaring of the eyebrow; Muscle weakness; Oculomotor apraxia; Peripheral axonal degeneration; Peripheral neuropathy; Pes cavus; Progressive external ophthalmoplegia; Scoliosis; Tremor; Truncal ataxia
APTX9p21.1100%gene with protein product606350AXA1Adult onset; Areflexia; Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cognitive impairment; Decreased number of large peripheral myelinated nerve fibers; Dementia; Distal amyotrophy; Distal sensory impairment; Dysarthria; Dystonia; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Hypercholesterolemia; Hypoalbuminemia; Hypometric saccades; Hyporeflexia; Juvenile onset; Limb ataxia; Medial flaring of the eyebrow; Muscle weakness; Oculomotor apraxia; Peripheral axonal degeneration; Peripheral neuropathy; Pes cavus; Progressive external ophthalmoplegia; Scoliosis; Tremor; Truncal ataxia
ARL13B3q11.1-q11.2100%gene with protein product608922ARL2L1Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Intellectual disability; Long face; Molar tooth sign on MRI; Muscular hypotonia; Nystagmus; Obesity; Oculomotor apraxia; Optic disc pallor; Pigmentary retinopathyHeterotaxy
ARL13B3q11.1-q11.2100%gene with protein product608922ARL2L1Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Intellectual disability; Long face; Molar tooth sign on MRI; Muscular hypotonia; Nystagmus; Obesity; Oculomotor apraxia; Optic disc pallor; Pigmentary retinopathyHeterotaxy
ARMC92q37.199.99%gene with protein product617612Apnea; Ataxia; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Global developmental delay; Intellectual disability; Long face; Muscular hypotonia; Nystagmus; Oculomotor apraxia
ARSA22q13.33100%gene with protein product607574Abnormality of the cerebral white matter; Ataxia; Autosomal recessive inheritance; Babinski sign; Bulbar palsy; Cholecystitis; Chorea; Decreased nerve conduction velocity; Delusions; Dysarthria; Dystonia; EMG: neuropathic changes; Emotional lability; Gait disturbance; Gallbladder dysfunction; Generalized hypotonia; Hallucinations; Hyperreflexia; Hyporeflexia; Increased CSF protein; Intellectual disability; Loss of speech; Mental deterioration; Optic atrophy; Peripheral demyelination; Progressive peripheral neuropathy; Seizures; Spastic tetraplegia; Tetraplegia; Urinary incontinence
ARV11q42.2100%gene with protein product611647Ataxia; Autosomal recessive inheritance; Dystonia; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Infantile onset; Intellectual disability, profound; Status epilepticus
ASL7q11.21100%gene with protein product608310Aminoaciduria; Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Dry hair; EEG abnormality; Episodic ammonia intoxication; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatic fibrosis; Hepatomegaly; Hyperammonemia; Hyperglutaminemia; Hypoargininemia; Intellectual disability; Irritability; Lethargy; Neonatal onset; Oroticaciduria; Protein avoidance; Respiratory alkalosis; Seizures; Short stature; Trichorrhexis nodosa; VomitingAutoimmune Disorders
ASL7q11.21100%gene with protein product608310Aminoaciduria; Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Dry hair; EEG abnormality; Episodic ammonia intoxication; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatic fibrosis; Hepatomegaly; Hyperammonemia; Hyperglutaminemia; Hypoargininemia; Intellectual disability; Irritability; Lethargy; Neonatal onset; Oroticaciduria; Protein avoidance; Respiratory alkalosis; Seizures; Short stature; Trichorrhexis nodosa; VomitingAutoimmune Disorders
ASS19q34.11100%gene with protein product603470ASSAtaxia; Autosomal recessive inheritance; Cerebral edema; Cirrhosis; Coma; Episodic ammonia intoxication; Failure to thrive; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglutaminemia; Hypoargininemia; Intellectual disability; Irritability; Lethargy; Neonatal onset; Oroticaciduria; Phenotypic variability; Protein avoidance; Respiratory alkalosis; Seizures; Vomiting
ATAD3A1p36.3399.55%gene with protein product612316Abnormality of the foot; Absence seizures; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Deeply set eye; Delayed speech and language development; Distal amyotrophy; Esotropia; Feeding difficulties; Frontal bossing; Generalized hypotonia; Global developmental delay; High forehead; Hip dysplasia; Inability to walk; Infantile onset; Intellectual disability; Long face; Mandibular prognathia; Micrognathia; Muscular hypotonia of the trunk; Myopia; Nystagmus; Optic atrophy; Peripheral axonal neuropathy; Scoliosis; Short nose; Upslanted palpebral fissure
ATM11q22.399.93%gene with protein product607585ATA, ATDC, ATC, ATDAbnormal spermatogenesis; Abnormality of bone marrow cell morphology; Abnormality of chromosome stability; Abnormality of the hair; Anorexia; Aplasia/Hypoplasia of the thymus; Ataxia; Autosomal recessive inheritance; B-cell lymphoma; Bronchiectasis; Cafe-au-lait spot; Cellular immunodeficiency; Choreoathetosis; Conjunctival telangiectasia; Decreased antibody level in blood; Decreased proportion of CD4-positive T cells; Defective B cell differentiation; Delayed puberty; Diabetes mellitus; Dysarthria; Dystonia; Elevated alpha-fetoprotein; Elevated hepatic transaminases; Fatigue; Female hypogonadism; Fever; Gait disturbance; Glucose intolerance; Hodgkin lymphoma; Hypopigmentation of hair; Hypoplasia of the thymus; IgA deficiency; Immunoglobulin IgG2 deficiency; Leukemia; Lymphadenopathy; Lymphopenia; Mucosal telangiectasiae; Myoclonus; Neoplasm; Non-Hodgkin lymphoma; Nystagmus; Polycystic ovaries; Premature graying of hair; Recurrent bronchitis; Recurrent respiratory infections; Reduced tendon reflexes; Seizures; Short stature; Sinusitis; Skeletal muscle atrophy; Spasticity; Splenomegaly; Strabismus; Telangiectasia of the skin; Tremor; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
ATM11q22.399.93%gene with protein product607585ATA, ATDC, ATC, ATDAbnormal spermatogenesis; Abnormality of bone marrow cell morphology; Abnormality of chromosome stability; Abnormality of the hair; Anorexia; Aplasia/Hypoplasia of the thymus; Ataxia; Autosomal recessive inheritance; B-cell lymphoma; Bronchiectasis; Cafe-au-lait spot; Cellular immunodeficiency; Choreoathetosis; Conjunctival telangiectasia; Decreased antibody level in blood; Decreased proportion of CD4-positive T cells; Defective B cell differentiation; Delayed puberty; Diabetes mellitus; Dysarthria; Dystonia; Elevated alpha-fetoprotein; Elevated hepatic transaminases; Fatigue; Female hypogonadism; Fever; Gait disturbance; Glucose intolerance; Hodgkin lymphoma; Hypopigmentation of hair; Hypoplasia of the thymus; IgA deficiency; Immunoglobulin IgG2 deficiency; Leukemia; Lymphadenopathy; Lymphopenia; Mucosal telangiectasiae; Myoclonus; Neoplasm; Non-Hodgkin lymphoma; Nystagmus; Polycystic ovaries; Premature graying of hair; Recurrent bronchitis; Recurrent respiratory infections; Reduced tendon reflexes; Seizures; Short stature; Sinusitis; Skeletal muscle atrophy; Spasticity; Splenomegaly; Strabismus; Telangiectasia of the skin; Tremor; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
ATP13A21p36.13100%gene with protein product610513PARK9Aggressive behavior; Akinesia; Anarthria; Anosmia; Ataxia; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; Dementia; Distal sensory impairment; Dysarthria; Gait disturbance; Hallucinations; Hyperreflexia; Hypokinesia; Hyposmia; Mask-like facies; Myoclonus; Nystagmus; Paraparesis; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Postural instability; Psychotic episodes; Rapidly progressive; Rigidity; Slow saccadic eye movements; Spastic paraplegia; Spastic tetraplegia; Supranuclear gaze palsy; Torticollis; Tremor
ATP13A21p36.13100%gene with protein product610513PARK9Aggressive behavior; Akinesia; Anarthria; Anosmia; Ataxia; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; Dementia; Distal sensory impairment; Dysarthria; Gait disturbance; Hallucinations; Hyperreflexia; Hypokinesia; Hyposmia; Mask-like facies; Myoclonus; Nystagmus; Paraparesis; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Postural instability; Psychotic episodes; Rapidly progressive; Rigidity; Slow saccadic eye movements; Spastic paraplegia; Spastic tetraplegia; Supranuclear gaze palsy; Torticollis; Tremor
ATP1A21q23.2100%gene with protein product182340MHP2Abnormality of movement; Aphasia; Apraxia; Ataxia; Autosomal dominant inheritance; Blurred vision; Choreoathetosis; Coma; Confusion; Diplopia; Drowsiness; Dysarthria; Dysphasia; Dystonia; Episodic ataxia; Episodic hemiplegia; Episodic quadriplegia; Fever; Generalized tonic-clonic seizures; Hemiparesis; Hemiplegia; Hemiplegia/hemiparesis; Heterogeneous; Incomplete penetrance; Intellectual disability; Mental deterioration; Migraine with aura; Nystagmus; Seizures; Transient unilateral blurring of vision; Vertigo
ATP1A319q13.2100%gene with protein product182350DYT12Anxiety; Areflexia; Ataxia; Autosomal dominant inheritance; Blindness; Bradykinesia; Choreoathetosis; Depressivity; Drooling; Dysarthria; Dysmetria; Dysphagia; Dystonia; Emotional lability; Encephalopathy; Episodic ataxia; Episodic generalized hypotonia; Episodic quadriplegia; Gait ataxia; Global developmental delay; Hemiparesis; Hemiplegia; Hypomimic face; Incomplete penetrance; Intellectual disability; Mental deterioration; Muscle weakness; Mutism; Nystagmus; Optic atrophy; Parkinsonism; Pes cavus; Postural instability; Progressive sensorineural hearing impairment; Progressive visual loss; Sensorineural hearing impairment; Status epilepticus; Torticollis; Truncal ataxia; Unsteady gait; Young adult onset
ATP1A319q13.2100%gene with protein product182350DYT12Anxiety; Areflexia; Ataxia; Autosomal dominant inheritance; Blindness; Bradykinesia; Choreoathetosis; Depressivity; Drooling; Dysarthria; Dysmetria; Dysphagia; Dystonia; Emotional lability; Encephalopathy; Episodic ataxia; Episodic generalized hypotonia; Episodic quadriplegia; Gait ataxia; Global developmental delay; Hemiparesis; Hemiplegia; Hypomimic face; Incomplete penetrance; Intellectual disability; Mental deterioration; Muscle weakness; Mutism; Nystagmus; Optic atrophy; Parkinsonism; Pes cavus; Postural instability; Progressive sensorineural hearing impairment; Progressive visual loss; Sensorineural hearing impairment; Status epilepticus; Torticollis; Truncal ataxia; Unsteady gait; Young adult onset
ATP8A213q12.1399.82%gene with protein product605870Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Cerebral palsy; Congenital onset; Corpus callosum atrophy; Dysarthria; Gait disturbance; Hyperreflexia; Inability to walk; Intellectual disability; Muscular hypotonia; Seizures; Short stature; Skeletal muscle atrophy; Strabismus; Truncal ataxia
ATPAF217p11.2100%gene with protein product6089183-Methylglutaconic aciduria; Ataxia; Autosomal recessive inheritance; Cryptorchidism; Failure to thrive; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperammonemia; Hypertrophic cardiomyopathy; Hypospadias; Increased serum lactate; Infantile onset; Lactic acidosis; Low-set ears; Microcephaly; Prominent nasal bridge; Retrognathia; Short stature
AUH9q22.31100%gene with protein product6005293-Methylglutaconic aciduria; Ataxia; Athetosis; Autosomal recessive inheritance; Cerebral atrophy; Cognitive impairment; Delayed speech and language development; Dysarthria; Dystonia; Failure to thrive; Febrile seizures; Global developmental delay; Hyperreflexia; Infantile onset; Leukoencephalopathy; Metabolic acidosis; Motor delay; Optic atrophy; Phenotypic variability; Short attention span; Spastic tetraplegia; Urinary incontinence
B9D117p11.2100%gene with protein product614144Abnormal chorioretinal morphology; Abnormality of the posterior cranial fossa; Ambiguous genitalia; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypertelorism; Intellectual disability; Limb undergrowth; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Sloping forehead; Talipes; Talipes equinovarusHeterotaxy
B9D117p11.2100%gene with protein product614144Abnormal chorioretinal morphology; Abnormality of the posterior cranial fossa; Ambiguous genitalia; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypertelorism; Intellectual disability; Limb undergrowth; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Sloping forehead; Talipes; Talipes equinovarusHeterotaxy
BBS111q13.2100%gene with protein product209901Abnormal electroretinogram; Asthma; Ataxia; Autosomal recessive inheritance; Biliary tract abnormality; Brachydactyly; Broad foot; Decreased testicular size; Delayed speech and language development; Dental crowding; Diabetes mellitus; Foot polydactyly; Gait imbalance; Global developmental delay; Hepatic fibrosis; High, narrow palate; Hirsutism; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Left ventricular hypertrophy; Multicystic kidney dysplasia; Nephrogenic diabetes insipidus; Neurological speech impairment; Nystagmus; Obesity; Pigmentary retinopathy; Poor coordination; Postaxial hand polydactyly; Radial deviation of finger; Retinal degeneration; Short foot; Short stature; Specific learning disability; Strabismus; SyndactylyBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
BBS415q24.199.96%gene with protein product600374Abnormal electroretinogram; Asthma; Ataxia; Autosomal recessive inheritance; Biliary tract abnormality; Brachydactyly; Broad foot; Cryptorchidism; Decreased testicular size; Delayed speech and language development; Dental crowding; Diabetes mellitus; External genital hypoplasia; Foot polydactyly; Gait imbalance; Global developmental delay; Hepatic fibrosis; High, narrow palate; Hirsutism; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Left ventricular hypertrophy; Multicystic kidney dysplasia; Nephrogenic diabetes insipidus; Neurological speech impairment; Nyctalopia; Nystagmus; Obesity; Pigmentary retinopathy; Polydactyly; Poor coordination; Postaxial hand polydactyly; Radial deviation of finger; Renal cyst; Retinal degeneration; Rod-cone dystrophy; Short foot; Short stature; Specific learning disability; Strabismus; SyndactylyBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
BCKDHA19q13.2100%gene with protein product608348OVD1AAtaxia; Autosomal recessive inheritance; Cerebral edema; Coma; Elevated plasma branched chain amino acids; Feeding difficulties in infancy; Generalized hypotonia; Growth abnormality; Hallucinations; Hypertonia; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Ketosis; Lactic acidosis; Lethargy; Pancreatitis; Seizures; Vomiting
BCKDHB6q14.199.91%gene with protein product248611Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Elevated plasma branched chain amino acids; Feeding difficulties in infancy; Generalized hypotonia; Growth abnormality; Hallucinations; Hypertonia; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Ketosis; Lactic acidosis; Lethargy; Pancreatitis; Seizures; Vomiting
BCS1L2q35100%gene with protein product603647Abnormal pattern of respiration; Abnormality of the abdominal wall; Abnormality of the coagulation cascade; Alopecia; Aminoaciduria; Anhidrosis; Ataxia; Autosomal recessive inheritance; Brittle hair; Cataract; Cerebellar atrophy; Cerebral atrophy; Cholangitis; Cholestasis; Chronic lactic acidosis; Cirrhosis; CNS demyelination; Coarse hair; Death in early adulthood; Decreased liver function; Decreased mitochondrial complex III activity in liver tissue; Decreased transferrin saturation; Depressivity; Dry hair; Dysarthria; Dystonia; EEG abnormality; Elevated hepatic iron concentration; Elevated hepatic transaminases; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes; Hallucinations; Hearing impairment; Hepatic steatosis; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hypogonadism; Increased CSF lactate; Increased serum ferritin; Increased serum iron; Increased serum lactate; Increased serum pyruvate; Infantile onset; Intellectual disability; Intrauterine growth retardation; Lactic acidosis; Metabolic acidosis; Microvesicular hepatic steatosis; Mitochondrial encephalopathy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Pili torti; Progressive; Ptosis; Ragged-red muscle fibers; Renal Fanconi syndrome; Respiratory failure; Rhabdomyolysis; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus; Tubulointerstitial nephritis; Variable expressivity
BCS1L2q35100%gene with protein product603647Abnormal pattern of respiration; Abnormality of the abdominal wall; Abnormality of the coagulation cascade; Alopecia; Aminoaciduria; Anhidrosis; Ataxia; Autosomal recessive inheritance; Brittle hair; Cataract; Cerebellar atrophy; Cerebral atrophy; Cholangitis; Cholestasis; Chronic lactic acidosis; Cirrhosis; CNS demyelination; Coarse hair; Death in early adulthood; Decreased liver function; Decreased mitochondrial complex III activity in liver tissue; Decreased transferrin saturation; Depressivity; Dry hair; Dysarthria; Dystonia; EEG abnormality; Elevated hepatic iron concentration; Elevated hepatic transaminases; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes; Hallucinations; Hearing impairment; Hepatic steatosis; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hypogonadism; Increased CSF lactate; Increased serum ferritin; Increased serum iron; Increased serum lactate; Increased serum pyruvate; Infantile onset; Intellectual disability; Intrauterine growth retardation; Lactic acidosis; Metabolic acidosis; Microvesicular hepatic steatosis; Mitochondrial encephalopathy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Pili torti; Progressive; Ptosis; Ragged-red muscle fibers; Renal Fanconi syndrome; Respiratory failure; Rhabdomyolysis; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus; Tubulointerstitial nephritis; Variable expressivity
BEAN116q21100%gene with protein productXomeDxSlice is not appropriate.612051SCA31Ataxia; Autosomal dominant inheritance; Cerebellar atrophy; Dysarthria; Gait ataxia; Gaze-evoked horizontal nystagmus; Late onset; Limb ataxia
BSCL211q12.3100%gene with protein product606158GNG3LG, SPG17Abnormal pyramidal signs; Abnormality of skin pigmentation; Acanthosis nigricans; Accelerated skeletal maturation; Acute pancreatitis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bone cyst; Brisk reflexes; Broad foot; Cerebral atrophy; Cirrhosis; Clitoral hypertrophy; Coarse facial features; Cold-induced hand cramps; Congenital onset; Cystic angiomatosis of bone; Decreased fertility; Decreased fertility in females; Decreased serum leptin; Delayed speech and language development; Developmental regression; Diabetes mellitus; Distal amyotrophy; Distal muscle weakness; Dystonia; Elevated hepatic transaminases; Encephalopathy; First dorsal interossei muscle atrophy; First dorsal interossei muscle weakness; Generalized hirsutism; Generalized lipodystrophy; Generalized muscular appearance from birth; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Heterogeneous; High pitched voice; Hirsutism; Hyperactivity; Hyperhidrosis; Hyperinsulinemia; Hyperreflexia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Impaired vibration sensation in the lower limbs; Insulin resistance; Insulin-resistant diabetes mellitus at puberty; Intellectual disability; Intellectual disability, mild; Labial hypertrophy; Large hands; Lipoatrophy; Lipodystrophy; Long foot; Loss of speech; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Mandibular prognathia; Mental deterioration; Myoclonus; Nephrolithiasis; Neuronal loss in central nervous system; Onset; Pes cavus; Polycystic ovaries; Polyphagia; Poor motor coordination; Precocious puberty; Progressive; Progressive encephalopathy; Progressive psychomotor deterioration; Prominent supraorbital ridges; Prominent umbilicus; Reduced intraabdominal adipose tissue; Reduced intrathoracic adipose tissue; Reduced subcutaneous adipose tissue; Seizures; Skeletal muscle hypertrophy; Sleep disturbance; Slow progression; Spastic gait; Spastic paraplegia; Spasticity; Splenomegaly; Tall stature; Tetraparesis; Thenar muscle atrophy; Thenar muscle weakness; Tremor; Triangular face; Umbilical hernia; Upper limb muscle weakness
BTD3p25.1100%gene with protein product609019Alopecia; Apnea; Ataxia; Autosomal recessive inheritance; Conjunctivitis; Desquamation of skin soon after birth; Diarrhea; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Feeding difficulties in infancy; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hearing impairment; Hepatomegaly; Hyperammonemia; Keratoconjunctivitis; Lethargy; Metabolic ketoacidosis; Muscular hypotonia; Optic atrophy; Organic aciduria; Perioral eczema; Recurrent skin infections; Seborrheic dermatitis; Seizures; Sensorineural hearing impairment; Skin rash; Splenomegaly; Tachypnea; Visual loss; Vomiting
BTD3p25.1100%gene with protein product609019Alopecia; Apnea; Ataxia; Autosomal recessive inheritance; Conjunctivitis; Desquamation of skin soon after birth; Diarrhea; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Feeding difficulties in infancy; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hearing impairment; Hepatomegaly; Hyperammonemia; Keratoconjunctivitis; Lethargy; Metabolic ketoacidosis; Muscular hypotonia; Optic atrophy; Organic aciduria; Perioral eczema; Recurrent skin infections; Seborrheic dermatitis; Seizures; Sensorineural hearing impairment; Skin rash; Splenomegaly; Tachypnea; Visual loss; Vomiting
C12ORF6512q24.31100%gene with protein product613541Areflexia; Ataxia; Autosomal recessive inheritance; Developmental regression; Distal sensory impairment; Dysarthria; Facial diplegia; Failure to thrive; Generalized hypotonia; Global developmental delay; Increased CSF lactate; Increased serum lactate; Nystagmus; Ophthalmoplegia; Optic atrophy; Paralytic ileus; Progressive; Ptosis; Skeletal muscle atrophy; Visual impairment
C19ORF1219q1294.81%gene with protein product614297SPG43Abnormal lower motor neuron morphology; Ankle contracture; Ataxia; Autosomal recessive inheritance; Babinski sign; Delayed speech and language development; Dementia; Depressivity; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Elevated serum creatine phosphokinase; Emotional lability; Gait disturbance; Hyperreflexia; Hyporeflexia; Impulsivity; Knee flexion contracture; Lewy bodies; Neurodegeneration; Optic atrophy; Oromandibular dystonia; Parkinsonism; Pes cavus; Phenotypic variability; Progressive; Progressive visual loss; Scapular winging; Slow progression; Spastic paraplegia; Spasticity; Tremor; Variable expressivity
C19ORF7019p13.3100%gene with protein product6166583-Methylglutaconic aciduria; Ataxia; Choreoathetosis; Dysarthria; Intellectual disability; Nystagmus; Spastic paraparesis; Visual impairment
CA88q12.199.93%gene with protein product114815CALSAtaxia; Autosomal recessive inheritance; Cerebral palsy; Congenital onset; Dysarthria; Gait disturbance; Hyperreflexia; Intellectual disability; Intellectual disability, mild; Muscular hypotonia; Seizures; Short stature; Skeletal muscle atrophy; Slurred speech; Strabismus; Tremor
CA88q12.199.93%gene with protein product114815CALSAtaxia; Autosomal recessive inheritance; Cerebral palsy; Congenital onset; Dysarthria; Gait disturbance; Hyperreflexia; Intellectual disability; Intellectual disability, mild; Muscular hypotonia; Seizures; Short stature; Skeletal muscle atrophy; Slurred speech; Strabismus; Tremor
CACNA1A19p13.13100%gene with protein productPlease note that some forms of ataxia are associated with a repeat expansion in the CACNA1A gene which may not be detected by XomeDxSlice.601011CACNL1A4, SCA6, MHP1, MHPAbnormal vestibulo-ocular reflex; Abnormality of movement; Agitation; Anxiety; Ataxia; Athetosis; Auditory hallucinations; Autosomal dominant inheritance; Cerebellar atrophy; Cerebellar vermis atrophy; Coma; Confusion; Diplopia; Downbeat nystagmus; Drowsiness; Dysarthria; Dyscalculia; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Epileptic encephalopathy; Episodic ataxia; Esotropia; Fever; Flexion contracture; Gaze-evoked nystagmus; Generalized hypotonia; Genetic anticipation; Global developmental delay; Hemiparesis; Hemiplegia; Hemiplegia/hemiparesis; Heterogeneous; Hyperreflexia; Hypertonia; Impaired smooth pursuit; Incomplete penetrance; Migraine; Migraine with aura; Muscle weakness; Myotonia; Nystagmus; Paresthesia; Progressive; Progressive cerebellar ataxia; Psychosis; Saccadic smooth pursuit; Seizures; Sensory neuropathy; Tinnitus; Transient unilateral blurring of vision; Tremor; Vertigo; Vestibular dysfunction; Visual hallucinations
CACNA1A19p13.13100%gene with protein productPlease note that some forms of ataxia are associated with a repeat expansion in the CACNA1A gene which may not be detected by XomeDxSlice.601011CACNL1A4, SCA6, MHP1, MHPAbnormal vestibulo-ocular reflex; Abnormality of movement; Agitation; Anxiety; Ataxia; Athetosis; Auditory hallucinations; Autosomal dominant inheritance; Cerebellar atrophy; Cerebellar vermis atrophy; Coma; Confusion; Diplopia; Downbeat nystagmus; Drowsiness; Dysarthria; Dyscalculia; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Epileptic encephalopathy; Episodic ataxia; Esotropia; Fever; Flexion contracture; Gaze-evoked nystagmus; Generalized hypotonia; Genetic anticipation; Global developmental delay; Hemiparesis; Hemiplegia; Hemiplegia/hemiparesis; Heterogeneous; Hyperreflexia; Hypertonia; Impaired smooth pursuit; Incomplete penetrance; Migraine; Migraine with aura; Muscle weakness; Myotonia; Nystagmus; Paresthesia; Progressive; Progressive cerebellar ataxia; Psychosis; Saccadic smooth pursuit; Seizures; Sensory neuropathy; Tinnitus; Transient unilateral blurring of vision; Tremor; Vertigo; Vestibular dysfunction; Visual hallucinations
CACNA1A19p13.13100%gene with protein productPlease note that some forms of ataxia are associated with a repeat expansion in the CACNA1A gene which may not be detected by XomeDxSlice.601011CACNL1A4, SCA6, MHP1, MHPAbnormal vestibulo-ocular reflex; Abnormality of movement; Agitation; Anxiety; Ataxia; Athetosis; Auditory hallucinations; Autosomal dominant inheritance; Cerebellar atrophy; Cerebellar vermis atrophy; Coma; Confusion; Diplopia; Downbeat nystagmus; Drowsiness; Dysarthria; Dyscalculia; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Epileptic encephalopathy; Episodic ataxia; Esotropia; Fever; Flexion contracture; Gaze-evoked nystagmus; Generalized hypotonia; Genetic anticipation; Global developmental delay; Hemiparesis; Hemiplegia; Hemiplegia/hemiparesis; Heterogeneous; Hyperreflexia; Hypertonia; Impaired smooth pursuit; Incomplete penetrance; Migraine; Migraine with aura; Muscle weakness; Myotonia; Nystagmus; Paresthesia; Progressive; Progressive cerebellar ataxia; Psychosis; Saccadic smooth pursuit; Seizures; Sensory neuropathy; Tinnitus; Transient unilateral blurring of vision; Tremor; Vertigo; Vestibular dysfunction; Visual hallucinations
CC2D2A4p15.3299.94%gene with protein product612013Abnormal chorioretinal morphology; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Astigmatism; Ataxia; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Cystic liver disease; Depressed nasal ridge; Elevated hepatic transaminases; Encephalocele; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Pulmonary hypoplasia; Renal cyst; Renal insufficiency; Retinal dystrophy; Rod-cone dystrophy; Round face; Sclerocornea; Sloping forehead; Spasticity; Splenomegaly; Tachypnea; Talipes; Talipes equinovarus; Ventriculomegaly; Visual impairment; Wide mouthHeterotaxy
CC2D2A4p15.3299.94%gene with protein product612013Abnormal chorioretinal morphology; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Astigmatism; Ataxia; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Cystic liver disease; Depressed nasal ridge; Elevated hepatic transaminases; Encephalocele; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Pulmonary hypoplasia; Renal cyst; Renal insufficiency; Retinal dystrophy; Rod-cone dystrophy; Round face; Sclerocornea; Sloping forehead; Spasticity; Splenomegaly; Tachypnea; Talipes; Talipes equinovarus; Ventriculomegaly; Visual impairment; Wide mouthHeterotaxy
CC2D2A4p15.3299.94%gene with protein product612013Abnormal chorioretinal morphology; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the iris; Apnea; Astigmatism; Ataxia; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cirrhosis; Cleft palate; Coloboma; Congenital hepatic fibrosis; Cryptorchidism; Cystic liver disease; Depressed nasal ridge; Elevated hepatic transaminases; Encephalocele; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Multiple small medullary renal cysts; Muscular hypotonia; Nephronophthisis; Nephropathy; Nystagmus; Occipital encephalocele; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Optic nerve coloboma; Portal hypertension; Postaxial foot polydactyly; Postaxial hand polydactyly; Ptosis; Pulmonary hypoplasia; Renal cyst; Renal insufficiency; Retinal dystrophy; Rod-cone dystrophy; Round face; Sclerocornea; Sloping forehead; Spasticity; Splenomegaly; Tachypnea; Talipes; Talipes equinovarus; Ventriculomegaly; Visual impairment; Wide mouthHeterotaxy
CDH2310q22.1100%gene with protein product605516DFNB12, USH1DAbnormal cochlea morphology; Abnormal electroretinogram; Abnormality of hair density; Abnormality of the eye; Abnormality of the menstrual cycle; Acne; Adrenal hyperplasia; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Amenorrhea; Anxiety; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Bruising susceptibility; Cataract; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Depressivity; Diabetes mellitus; Dyspareunia; Easy fatigability; Enlarged pituitary gland; Failure to thrive; Fatigue; Female hypogonadism; Galactorrhea; Generalized hirsutism; Global developmental delay; Goiter; Gynecomastia; Headache; Hearing impairment; Hemianopia; High hypermetropia; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Immunodeficiency; Impotence; Increased thyroid-stimulating hormone level; Infertility; Intellectual disability; Iris hypopigmentation; Lipodystrophy; Male hypogonadism; Menorrhagia; Metrorrhagia; Nephrolithiasis; Nyctalopia; Osteopenia; Osteoporosis; Pallor; Palpitations; Pituitary adenoma; Pituitary hypothyroidism; Prelingual sensorineural hearing impairment; Progressive visual loss; Recurrent fractures; Rod-cone dystrophy; Round face; Schizophrenia; Scotoma; Secondary growth hormone deficiency; Sensorineural hearing impairment; Thin skin; Thyroid crisis; Tremor; Truncal obesity; Vestibular dysfunction; Vestibular hypofunction; Visual loss; Vomiting; Weight loss
CEP1041p36.32100%gene with protein product616690KIAA0562Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Global developmental delay; Infantile onset; Intellectual disability; Long face; Muscular hypotonia; Nystagmus; Oculomotor apraxia
CEP1205q23.2100%gene with protein product613446CCDC100Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Ambiguous genitalia; Apnea; Ataxia; Autosomal recessive inheritance; Bell-shaped thorax; Biparietal narrowing; Brachydactyly; Cerebellar vermis hypoplasia; Coarse facial features; Cone-shaped epiphysis; Cryptorchidism; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Flat acetabular roof; Gait disturbance; Global developmental delay; Horizontal ribs; Hypertelorism; Hypoplastic facial bones; Hypoplastic pelvis; Intellectual disability; Long face; Macrotia; Micromelia; Microretrognathia; Midface retrusion; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Natal tooth; Nystagmus; Oculomotor apraxia; Omphalocele; Patent ductus arteriosus; Preaxial polydactyly; Prominent nose; Pulmonary hypoplasia; Relative macrocephaly; Renal hypoplasia; Respiratory insufficiency; Retinal dystrophy; Short foot; Short ribs; Short thorax; Skeletal dysplasia; Unicoronal synostosisShort-Rib Thoracic Dysplasia
CEP1205q23.2100%gene with protein product613446CCDC100Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Ambiguous genitalia; Apnea; Ataxia; Autosomal recessive inheritance; Bell-shaped thorax; Biparietal narrowing; Brachydactyly; Cerebellar vermis hypoplasia; Coarse facial features; Cone-shaped epiphysis; Cryptorchidism; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Flat acetabular roof; Gait disturbance; Global developmental delay; Horizontal ribs; Hypertelorism; Hypoplastic facial bones; Hypoplastic pelvis; Intellectual disability; Long face; Macrotia; Micromelia; Microretrognathia; Midface retrusion; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Natal tooth; Nystagmus; Oculomotor apraxia; Omphalocele; Patent ductus arteriosus; Preaxial polydactyly; Prominent nose; Pulmonary hypoplasia; Relative macrocephaly; Renal hypoplasia; Respiratory insufficiency; Retinal dystrophy; Short foot; Short ribs; Short thorax; Skeletal dysplasia; Unicoronal synostosisShort-Rib Thoracic Dysplasia
CEP29012q21.3298.28%gene with protein product610142Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the nervous system; Abnormality of the optic disc; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the cerebellar vermis; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Atrial septal defect; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital blindness; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Encephalocele; Episodic tachypnea; Full cheeks; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the ovary; Hyposmia; Impaired renal concentrating ability; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Keratoconus; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pigmentary retinopathy; Postaxial foot polydactyly; Postaxial hand polydactyly; Premature ovarian insufficiency; Progressive visual loss; Ptosis; Reduced visual acuity; Renal cortical cysts; Renal cyst; Retinal coloboma; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Seizures; Severe visual impairment; Short stature; Sloping forehead; Stage 5 chronic kidney disease; Tachypnea; Talipes; Tapetoretinal degeneration; Thickened superior cerebellar peduncle; Ventricular septal defect; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
CEP29012q21.3298.28%gene with protein product610142Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the nervous system; Abnormality of the optic disc; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the cerebellar vermis; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Atrial septal defect; Autistic behavior; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Chorioretinal coloboma; Cleft palate; Congenital blindness; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Encephalocele; Episodic tachypnea; Full cheeks; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the ovary; Hyposmia; Impaired renal concentrating ability; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Keratoconus; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pigmentary retinopathy; Postaxial foot polydactyly; Postaxial hand polydactyly; Premature ovarian insufficiency; Progressive visual loss; Ptosis; Reduced visual acuity; Renal cortical cysts; Renal cyst; Retinal coloboma; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Seizures; Severe visual impairment; Short stature; Sloping forehead; Stage 5 chronic kidney disease; Tachypnea; Talipes; Tapetoretinal degeneration; Thickened superior cerebellar peduncle; Ventricular septal defect; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
CEP417q32.299.99%gene with protein product610523TSGA14Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Intellectual disability; Long face; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Polydactyly; Retinal dystrophyDisorders of Sex Development; Heterotaxy
CEP417q32.299.99%gene with protein product610523TSGA14Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Intellectual disability; Long face; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Polydactyly; Retinal dystrophyDisorders of Sex Development; Heterotaxy
CEP417q32.299.99%gene with protein product610523TSGA14Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Intellectual disability; Long face; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Polydactyly; Retinal dystrophyDisorders of Sex Development; Heterotaxy
CEP789q21.299.76%gene with protein product617110C9orf81Abnormal cochlea morphology; Abnormal electroretinogram; Astigmatism; Ataxia; Autosomal recessive inheritance; Cataract; Hemianopia; High hypermetropia; Iris hypopigmentation; Macular degeneration; Nyctalopia; Nystagmus; Photophobia; Scotoma; Sensorineural hearing impairment; Vestibular hypofunction; Visual loss
CHCHD1022q11.2398.57%gene with protein product615903C22orf16Amyotrophic lateral sclerosis; Anxiety; Areflexia; Ataxia; Autosomal dominant inheritance; Babinski sign; Bulbar palsy; Depressivity; Difficulty walking; Dysarthria; Dysphagia; Dyspnea; Elevated serum creatine phosphokinase; Emotional lability; Exercise intolerance; Facial palsy; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal lobe dementia; Frontotemporal dementia; Generalized muscle weakness; Hammertoe; Hyporeflexia; Increased serum lactate; Muscle cramps; Neck flexor weakness; Neurodegeneration; Pain; Paralysis; Pes cavus; Pes planus; Progressive; Proximal muscle weakness in lower limbs; Respiratory failure; Short stature; Skeletal muscle atrophy; Slow progression; Spasticity; Spinal muscular atrophy; Xerostomia
CHD215q26.1100%gene with protein product602119Abnormal brain FDG positron emission tomography; Abnormality of brainstem morphology; Absence seizures; Aggressive behavior; Ataxia; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Developmental regression; Dysarthria; EEG abnormality; EEG with abnormally slow frequencies; EEG with focal sharp slow waves; EEG with spike-wave complexes (>3.5 Hz); Encephalopathy; Epileptic encephalopathy; Falls; Febrile seizures; Generalized myoclonic seizures; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hyperactivity; Intellectual disability; Mental deterioration; Myoclonic atonic seizures; Myoclonus; Personality disorder; Status epilepticus
CIB215q25.1100%gene with protein product605564DFNB48, USH1JAbnormal cochlea morphology; Abnormal electroretinogram; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Cataract; Congenital onset; Global developmental delay; Hemianopia; High hypermetropia; Intellectual disability; Iris hypopigmentation; Motor delay; Nyctalopia; Profound sensorineural hearing impairment; Rod-cone dystrophy; Schizophrenia; Scotoma; Sensorineural hearing impairment; Vestibular dysfunction; Vestibular hypofunction; Visual loss
CISD24q2499.87%gene with protein product611507ZCD2, WFS2Abnormal bleeding; Abnormality of mesentery morphology; Ataxia; Autosomal recessive inheritance; Depressivity; Diabetes insipidus; Diabetes mellitus; Dysarthria; Dysuria; Feeding difficulties in infancy; Impaired collagen-induced platelet aggregation; Nephropathy; Nystagmus; Optic atrophy; Optic neuropathy; Polydipsia; Recurrent urinary tract infections; Seizures; Sensorineural hearing impairment
CLN615q23100%gene with protein product606725Abnormal nervous system electrophysiology; Abnormality of extrapyramidal motor function; Adult onset; Ataxia; Auditory hallucinations; Autosomal recessive inheritance; Cerebral atrophy; Curvilinear intracellular accumulation of autofluorescent lipopigment storage material; Dementia; Depressivity; Fingerprint intracellular accumulation of autofluorescent lipopigment storage material; Granular osmiophilic deposits (GROD) in cells; Increased neuronal autofluorescent lipopigment; Leukoencephalopathy; Motor deterioration; Myoclonus; Progressive visual loss; Rectilinear intracellular accumulation of autofluorescent lipopigment storage material; Retinal degeneration; Seizures; Visual hallucinations
CLN88p23.3100%gene with protein product607837EPMR, C8orf61Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Clumsiness; Curvilinear intracellular accumulation of autofluorescent lipopigment storage material; Delayed speech and language development; Developmental regression; EEG abnormality; Focal seizures with impairment of consciousness or awareness; Generalized tonic-clonic seizures; Increased neuronal autofluorescent lipopigment; Intellectual disability; Irritability; Mental deterioration; Myoclonus; Progressive visual loss; Psychosis; Restlessness; Seizures; Slow progression
CLRN13q25.1100%gene with protein product606397USH3, USH3A, RP61Abnormal cochlea morphology; Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Astigmatism; Ataxia; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Glaucoma; Hemianopia; High hypermetropia; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Iris hypopigmentation; Keratoconus; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Reduced visual acuity; Rod-cone dystrophy; Scotoma; Sensorineural hearing impairment; Undetectable light- and dark-adapted electroretinogram; Vestibular dysfunction; Vestibular hypofunction; Visual field defect; Visual impairment; Visual loss; Wide nasal bridge
COA52q11.2100%gene with protein product613920C2orf64Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Congenital onset; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COA71p32.3100%gene with protein product615623C1orf163, SELRC1Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COG416q22.1100%gene with protein product606976Abnormal protein O-linked glycosylation; Abnormality of the coagulation cascade; Absent speech; Ataxia; Autosomal recessive inheritance; Cerebral atrophy; Cirrhosis; Complex febrile seizures; Elevated alkaline phosphatase; Elevated hepatic transaminases; Failure to thrive in infancy; Feeding difficulties; Frontotemporal cerebral atrophy; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Growth delay; Hepatosplenomegaly; Hypercholesterolemia; Hyperreflexia; Intermittent diarrhea; Irritability; Limb hypertonia; Microcephaly; Muscular hypotonia of the trunk; Nystagmus; Recurrent respiratory infections; Recurrent upper respiratory tract infections; Sloping forehead; Thick hair; Thrombocytopenia; Type II transferrin isoform profile
COG416q22.1100%gene with protein product606976Abnormal protein O-linked glycosylation; Abnormality of the coagulation cascade; Absent speech; Ataxia; Autosomal recessive inheritance; Cerebral atrophy; Cirrhosis; Complex febrile seizures; Elevated alkaline phosphatase; Elevated hepatic transaminases; Failure to thrive in infancy; Feeding difficulties; Frontotemporal cerebral atrophy; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Growth delay; Hepatosplenomegaly; Hypercholesterolemia; Hyperreflexia; Intermittent diarrhea; Irritability; Limb hypertonia; Microcephaly; Muscular hypotonia of the trunk; Nystagmus; Recurrent respiratory infections; Recurrent upper respiratory tract infections; Sloping forehead; Thick hair; Thrombocytopenia; Type II transferrin isoform profile
COL18A121q22.399.59%gene with protein product120328KNOAbnormal vitreous humor morphology; Ataxia; Autosomal recessive inheritance; Band keratopathy; Calvarial skull defect; Cerebellar atrophy; Cerebral atrophy; Congenital cataract; High myopia; Hydrocephalus; Macular degeneration; Macular hypoplasia; Myopia; Nystagmus; Occipital encephalocele; Phenotypic variability; Phthisis bulbi; Polymicrogyria; Progressive visual loss; Retinal detachment; Seizures; Ventriculomegaly; Visual loss; Vitreoretinal degeneration
COQ24q21.2399.98%gene with protein product609825Anemia; Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Dysarthria; Elevated serum creatine phosphokinase; Encephalopathy; Glomerulosclerosis; Hepatic failure; Hypergonadotropic hypogonadism; Hypertrophic cardiomyopathy; Intellectual disability; Lactic acidosis; Motor delay; Nephrotic syndrome; Nystagmus; Onset; Pancytopenia; Phenotypic variability; Postural instability; Progressive muscle weakness; Ragged-red muscle fibers; Recurrent myoglobinuria; Rod-cone dystrophy; Scanning speech; Seizures; Sensorineural hearing impairment; Specific learning disability; Visual lossNephrotic Syndrome
COQ8A1q42.13100%gene with protein productFormer name = ADCK3606980CABC1, ADCK3Ataxia; Autosomal recessive inheritance; Brisk reflexes; Central hypotonia; Cerebellar atrophy; Developmental regression; Exercise intolerance; Focal T2 hypointense basal ganglia lesion; Generalized hypotonia; Hyperreflexia; Increased intramyocellular lipid droplets; Intellectual disability, moderate; Lactic acidosis; Pes cavus; Progressive cerebellar ataxia; Proximal muscle weakness; Seizures; Talipes cavus equinovarus; Variable expressivity
COX1017p12100%gene with protein product602125Abnormal pattern of respiration; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; CNS demyelination; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Glycosuria; Hepatocellular necrosis; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory failure; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
COX1017p12100%gene with protein product602125Abnormal pattern of respiration; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; CNS demyelination; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Glycosuria; Hepatocellular necrosis; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory failure; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
COX1412q13.12100%gene with protein product614478C12orf62Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COX1510q24.294.3%gene with protein product603646Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Decreased fetal movement; Dysarthria; Dystonia; Emotional lability; Encephalopathy; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatic steatosis; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Microcephaly; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
COX201q44100%gene with protein product614698FAM36AAminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COX6B119q13.12100%gene with protein product124089COX6BAminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
CP3q24-q25.199.87%gene with protein product117700Abnormality of extrapyramidal motor function; Aceruloplasminemia; Adult onset; Anemia; Ataxia; Autosomal recessive inheritance; Blepharospasm; Chorea; Cogwheel rigidity; Decreased serum ceruloplasmin; Decreased serum iron; Delayed speech and language development; Dementia; Depressivity; Diabetes mellitus; Dysarthria; Elevated hepatic iron concentration; Hypertonia; Increased serum ferritin; Parkinsonism; Refractory anemia; Retinal degeneration; Scanning speech; Torticollis; TremorAutoimmune Disorders ; Bardet-Biedl Syndrome ; Heterotaxy ; Male Infertility ; Obesity; Rhabdomyolysis
CP3q24-q25.199.87%gene with protein product117700Abnormality of extrapyramidal motor function; Aceruloplasminemia; Adult onset; Anemia; Ataxia; Autosomal recessive inheritance; Blepharospasm; Chorea; Cogwheel rigidity; Decreased serum ceruloplasmin; Decreased serum iron; Delayed speech and language development; Dementia; Depressivity; Diabetes mellitus; Dysarthria; Elevated hepatic iron concentration; Hypertonia; Increased serum ferritin; Parkinsonism; Refractory anemia; Retinal degeneration; Scanning speech; Torticollis; TremorAutoimmune Disorders ; Bardet-Biedl Syndrome ; Heterotaxy ; Male Infertility ; Obesity; Rhabdomyolysis
CPS12q34100%gene with protein product608307Aminoaciduria; Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Episodic ammonia intoxication; Failure to thrive; Global developmental delay; Hyperammonemia; Hypoargininemia; Intellectual disability; Irritability; Lethargy; Low plasma citrulline; Muscular hypotonia; Protein avoidance; Respiratory alkalosis; Respiratory insufficiency; Seizures; Vomiting
CSPP18q13.1-q13.299.9%gene with protein product611654Abnormal chorioretinal morphology; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Congenital hepatic fibrosis; Congenital onset; Cryptorchidism; Depressed nasal ridge; Dyspnea; Elongated superior cerebellar peduncle; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypertelorism; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Posterior fossa cyst; Ptosis; Sclerocornea; Sloping forehead; Strabismus; Talipes; Variable expressivityHeterotaxy ; Short-Rib Thoracic Dysplasia
CSPP18q13.1-q13.299.9%gene with protein product611654Abnormal chorioretinal morphology; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Congenital hepatic fibrosis; Congenital onset; Cryptorchidism; Depressed nasal ridge; Dyspnea; Elongated superior cerebellar peduncle; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypertelorism; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability; Lobar holoprosencephaly; Long face; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Postaxial foot polydactyly; Postaxial hand polydactyly; Posterior fossa cyst; Ptosis; Sclerocornea; Sloping forehead; Strabismus; Talipes; Variable expressivityHeterotaxy ; Short-Rib Thoracic Dysplasia
CSTB21q22.399.93%gene with protein productXomeDxSlice is not appropriate.601145EPM1, STFBAbsence seizures; Ataxia; Autosomal recessive inheritance; Dysarthria; EEG with polyspike wave complexes; Generalized tonic-clonic seizures; Intention tremor; Limb ataxia; Mental deterioration; Morning myoclonic jerks; Myoclonus
CTC117p13.1100%gene with protein product613129C17orf68Abnormal blistering of the skin; Abnormal pyramidal signs; Abnormality of coagulation; Abnormality of extrapyramidal motor function; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Ataxia; Autosomal recessive inheritance; Blindness; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Cerebral calcification; Dysarthria; Dystonia; Esophageal stenosis; Exudative retinopathy; Genu valgum; Global developmental delay; Hemiplegia; Hyperhidrosis; Hypermelanotic macule; Hypodontia; Hypopigmented skin patches; Infantile onset; Intestinal bleeding; Intrauterine growth retardation; Leukodystrophy; Leukoencephalopathy; Malabsorption; Mental deterioration; Metaphyseal sclerosis; Morphological abnormality of the pyramidal tract; Nail dysplasia; Nail dystrophy; Optic atrophy; Oral leukoplakia; Osteopenia; Osteoporosis; Pathologic fracture; Periodontitis; Phenotypic variability; Postnatal growth retardation; Progressive; Recurrent fractures; Recurrent respiratory infections; Retinal telangiectasia; Rough bone trabeculation; Scoliosis; Seizures; Short femoral neck; Short stature; Skin ulcer; Sparse hair; Spasticity; Taurodontia; Telangiectasia of the skin; Thin skin; Thrombocytopenia; Tracheoesophageal fistula; Tremor; Urethral stenosisAplastic Anemia ; Bone Marrow Failure Syndromes
CTDP118q23100%gene with protein product604927Abnormal facial shape; Abnormality of peripheral nerve conduction; Abnormality of the cervical spine; Abnormality of the dentition; Acute rhabdomyolysis; Ataxia; Autosomal recessive inheritance; Babinski sign; Camptodactyly of finger; Cataract; Cerebral atrophy; Cerebral cortical atrophy; Chorea; Cognitive impairment; Congenital cataract; Decreased motor nerve conduction velocity; Decreased serum estradiol; Dysmetria; Genu recurvatum; Global developmental delay; Hypergonadotropic hypogonadism; Hypoglycemia; Hypogonadotrophic hypogonadism; Infantile onset; Intellectual disability; Intellectual disability, mild; Intention tremor; Intrauterine growth retardation; Kyphoscoliosis; Long eyelashes; Malar prominence; Microcornea; Micrognathia; Microphthalmia; Motor axonal neuropathy; Motor delay; Motor polyneuropathy; Nystagmus; Osteoporosis; Paresthesia; Peripheral axonal degeneration; Peripheral demyelination; Peripheral hypomyelination; Pes cavus; Short stature; Split hand; Strabismus; Talipes equinovarusRhabdomyolysis
CTSD11p15.5100%gene with protein product116840CPSDAbnormality of metabolism/homeostasis; Apnea; Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Congenital onset; Increased neuronal autofluorescent lipopigment; Intellectual disability, progressive; Intellectual disability, severe; Low-set ears; Mental deterioration; Microcephaly; Neuronal loss in central nervous system; Premature closure of fontanelles; Respiratory failure; Retinal atrophy; Rigidity; Rod-cone dystrophy; Sloping forehead; Spasticity; Status epilepticus; Visual loss; Wide nasal bridge
CTSF11q13.2100%gene with protein product603539Abnormality of extrapyramidal motor function; Adult onset; Ataxia; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Dementia; Depressivity; Diffuse cerebral atrophy; Dysarthria; Emotional lability; Hyperreflexia; Myoclonus; Primitive reflex; Progressive; Seizures; Tremor
CYP27A12q35100%gene with protein product606530CYP27Abnormal pyramidal signs; Abnormality of central somatosensory evoked potentials; Abnormality of cholesterol metabolism; Abnormality of extrapyramidal motor function; Abnormality of the dentate nucleus; Abnormality of the periventricular white matter; Abnormality of vision; Angina pectoris; Ataxia; Atherosclerosis; Autosomal recessive inheritance; Cataract; Cerebellar atrophy; Cerebral atrophy; Cholelithiasis; Delusions; Dementia; Depressivity; Developmental regression; Diarrhea; Dystonia; EEG with generalized slow activity; EMG: axonal abnormality; Hallucinations; Hypercholesterolemia; Hyperreflexia; Intellectual disability; Muscle weakness; Myocardial infarction; Myoclonus; Neurological speech impairment; Optic disc pallor; Osteoporosis; Peripheral neuropathy; Pseudobulbar paralysis; Respiratory insufficiency; Seizures; Spasticity; Tendon xanthomatosis; Tremor; Xanthelasma
DAB11p32.2100%gene with protein product603448Abnormal conjugate eye movement; Ataxia; Autosomal dominant inheritance; Cerebellar vermis atrophy; Cogwheel rigidity; Diffuse cerebellar atrophy; Dysarthria; Dysdiadochokinesis; Falls; Frequent falls; Horizontal nystagmus; Limb dysmetria; Myoclonus; Scanning speech; Sensorineural hearing impairment; Sensory impairment; Slow progression; Tremor; Truncal ataxia; Unsteady gait
DARS21q25.1100%gene with protein product610956Ataxia; Autosomal recessive inheritance; Babinski sign; Flexion contracture; Hyperreflexia; Hyporeflexia; Leukoencephalopathy; Motor delay; Muscle weakness; Nystagmus; Peripheral axonal neuropathy; Skeletal muscle atrophy; Slow progression; Spasticity; Tremor; Variable expressivity
DBT1p21.299.89%gene with protein product248610Ataxia; Autosomal recessive inheritance; Cerebral edema; Coma; Elevated plasma branched chain amino acids; Feeding difficulties in infancy; Generalized hypotonia; Growth abnormality; Hallucinations; Hypertonia; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Ketosis; Lactic acidosis; Lethargy; Pancreatitis; Seizures; Vomiting
DCXXq23100%gene with protein product300121Agenesis of corpus callosum; Ataxia; Death in infancy; Dysarthria; Feeding difficulties; Hypertonia; Incomplete penetrance; Infantile onset; Intellectual disability; Intellectual disability, severe; Lissencephaly; Micropenis; Motor delay; Muscular hypotonia; Muscular hypotonia of the trunk; Nystagmus; Pachygyria; Postnatal growth retardation; Seizures; X-linked inheritance
DHFR5q14.199.97%gene with protein product126060Absence seizures; Ataxia; Autosomal recessive inheritance; Cerebral atrophy; Delayed myelination; Eyelid myoclonus; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hepatomegaly; Jaundice; Megaloblastic anemia; Pallor; Pancytopenia; Poor head control; Postnatal microcephaly; Thrombocytopenia; Variable expressivity
DLAT11q23.1100%gene with protein product608770DLTAAtaxia; Autosomal recessive inheritance; Choreoathetosis; Decreased activity of the pyruvate dehydrogenase complex; Delayed gross motor development; Drooling; Global developmental delay; Hyperreflexia; Infantile onset; Intellectual disability, mild; Jerky head movements; Lactic acidosis; Microcephaly; Neonatal hypotonia; Nystagmus; Oculomotor apraxia; Paroxysmal dystonia; Poor speech; Ptosis; Very rare
DLD7q31.1100%gene with protein product238331LAD, GCSLAtaxia; Autosomal recessive inheritance; Dystonia; Elevated hepatic transaminases; Elevated plasma branched chain amino acids; Encephalopathy; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hepatic encephalopathy; Hepatomegaly; Hypercoagulability; Hypertrophic cardiomyopathy; Hypoglycemia; Increased serum lactate; Increased urine alpha-ketoglutarate concentration; Lactic acidosis; Lethargy; Metabolic acidosis; Microcephaly; Neurodevelopmental delay; Seizures; Spasticity; Variable expressivity; Vomiting
DMXL215q21.299.98%gene with protein product612186Ataxia; Autosomal recessive inheritance; Central hypothyroidism; Dysarthria; Dystonia; Intellectual disability; Intellectual disability, moderate; Motor delay; Postnatal growth retardation; Progressive hearing impairment; Short stature
DNMT119p13.299.61%gene with protein product126375DNMTAdult onset; Apathy; Ataxia; Autosomal dominant inheritance; Cataplexy; Cerebellar atrophy; Cerebral atrophy; Decreased number of peripheral myelinated nerve fibers; Dementia; Depressivity; Excessive daytime sleepiness; Excessive daytime somnolence; Hyperreflexia; Hyporeflexia; Impulsivity; Irritability; Memory impairment; Narcolepsy; Osteomyelitis; Primitive reflex; Progressive; Sensorineural hearing impairment; Sensory neuropathy; Spasticity
DPM120q13.1399.94%gene with protein product603503Abnormal macular morphology; Abnormality of vision; Ankle contracture; Ataxia; Autosomal recessive inheritance; Camptodactyly; Cortical visual impairment; Depressed nasal bridge; Downslanted palpebral fissures; EEG abnormality; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Failure to thrive; Flat occiput; Generalized hypotonia; Hemangioma; Hepatomegaly; High, narrow palate; Hypertelorism; Infantile onset; Knee flexion contracture; Lower limb hyperreflexia; Microcephaly; Micrognathia; Muscular dystrophy; Muscular hypotonia; Nail dysplasia; Nystagmus; Optic atrophy; Patent ductus arteriosus; Pontocerebellar atrophy; Postnatal microcephaly; Progressive; Prolonged partial thromboplastin time; Reduced antithrombin III activity; Reduced protein C activity; Reduced protein S activity; Respiratory distress; Retinopathy; Seizures; Severe global developmental delay; Short palm; Small hand; Smooth philtrum; Splenomegaly; Strabismus; Telangiectasia; Tremor; Type I transferrin isoform profile; Upper limb undergrowth; Variable expressivityRhabdomyolysis
DYRK1A21q22.13100%gene with protein product600855DYRK1, DYRK, MNBHAtaxia; Autism; Autosomal dominant inheritance; Bulbous nose; Cerebral cortical atrophy; Deeply set eye; Delayed speech and language development; Failure to thrive in infancy; Febrile seizures; Gait disturbance; Generalized hypotonia; Hallux valgus; Hyperactivity; Hypotelorism; Intellectual disability, severe; Intrauterine growth retardation; Macrotia; Microcephaly; Micrognathia; Narrow forehead; Severe global developmental delay; Small for gestational age; Thickened helices
EDNRB13q22.3100%gene with protein product131244HSCR2, HSCRAbdominal pain; Abnormal auditory evoked potentials; Abnormal macular morphology; Abnormality of vision; Aganglionic megacolon; Albinism; Ataxia; Autonomic dysregulation; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue irides; Constipation; Global developmental delay; Hearing impairment; Heterochromia iridis; Heterogeneous; Hypopigmentation of the fundus; Hypopigmented skin patches; Intestinal obstruction; Large for gestational age; Leukodystrophy; Muscular hypotonia; Nausea and vomiting; Nystagmus; Olfactory lobe agenesis; Polyneuropathy; Premature graying of hair; Prominent nasal bridge; Sensorineural hearing impairment; Spastic paraparesis; Synophrys; Underdeveloped nasal alae; Weight loss; White eyebrow; White eyelashes; White forelock; Wide nasal bridgeWaardenburg Syndrome
ELP19q31.399.97%gene with protein product603722DYS, IKBKAPAbnormal pupil morphology; Abnormal renal physiology; Acrocyanosis; Alacrima; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Congenital onset; Constipation; Corneal erosion; Corneal ulceration; Decreased corneal reflex; Decreased number of large peripheral myelinated nerve fibers; Decreased sensitivity to hypoxemia; Decreased taste sensation; Diarrhea; Elevated serum creatinine; EMG abnormality; Emotional lability; Episodic fever; Episodic hyperhidrosis; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Glomerulosclerosis; Growth delay; Hyperhidrosis; Hypertension; Hypohidrosis; Hyporeflexia; Impaired pain sensation; Incoordination; Increased blood urea nitrogen; Malignant hyperthermia; Muscular hypotonia; Neuropathic arthropathy; Orthostatic hypotension; Progressive; Recurrent corneal erosions; Recurrent infections due to aspiration; Recurrent respiratory infections; Scoliosis; Tachycardia; Vomiting
ERCC219q13.32100%gene with protein product126340XPDAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Abnormality of the thorax; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Asthma; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Brittle hair; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Chronic diarrhea; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed speech and language development; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Ectropion; EEG abnormality; Entropion; Erythema; Erythroderma; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Fine hair; Flexion contracture; Fragile nails; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Hyporeflexia; IgG deficiency; Intellectual disability; Intellectual disability, progressive; Intestinal obstruction; Intrauterine growth retardation; Joint stiffness; Keratitis; Kyphoscoliosis; Lack of subcutaneous fatty tissue; Large beaked nose; Malabsorption; Melanoma; Mental deterioration; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Nail dystrophy; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Recurrent infections; Reduced tendon reflexes; Retinopathy; Retrognathia; Rocker bottom foot; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Small for gestational age; Small nail; Sparse hair; Spasticity; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin; Trichorrhexis nodosa; Urticaria; Visual impairment; Wide nasal bridgeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC219q13.32100%gene with protein product126340XPDAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Abnormality of the thorax; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Asthma; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Brittle hair; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Chronic diarrhea; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed speech and language development; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Ectropion; EEG abnormality; Entropion; Erythema; Erythroderma; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Fine hair; Flexion contracture; Fragile nails; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Hyporeflexia; IgG deficiency; Intellectual disability; Intellectual disability, progressive; Intestinal obstruction; Intrauterine growth retardation; Joint stiffness; Keratitis; Kyphoscoliosis; Lack of subcutaneous fatty tissue; Large beaked nose; Malabsorption; Melanoma; Mental deterioration; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Nail dystrophy; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Recurrent infections; Reduced tendon reflexes; Retinopathy; Retrognathia; Rocker bottom foot; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Small for gestational age; Small nail; Sparse hair; Spasticity; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin; Trichorrhexis nodosa; Urticaria; Visual impairment; Wide nasal bridgeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC32q14.3100%gene with protein product133510Abnormal CNS myelination; Abnormality of amino acid metabolism; Abnormality of the dentition; Arteriosclerosis; Arthralgia; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Basal ganglia calcification; Brittle hair; Cachexia; Cataract; Cerebellar atrophy; Coarse hair; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous melanoma; Cutaneous photosensitivity; Decreased fertility; Decreased nerve conduction velocity; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hyperreflexia; Hypogonadism; Hypopigmented skin patches; Increased cellular sensitivity to UV light; Intellectual disability; Intellectual disability, progressive; Keratitis; Melanoma; Microcephaly; Microphthalmia; Neoplasm; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Pigmentary retinopathy; Poikiloderma; Prematurely aged appearance; Progeroid facial appearance; Retinopathy; Sensorineural hearing impairment; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Tiger tail banding; Urticaria; VentriculomegalyEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC32q14.3100%gene with protein product133510Abnormal CNS myelination; Abnormality of amino acid metabolism; Abnormality of the dentition; Arteriosclerosis; Arthralgia; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Basal ganglia calcification; Brittle hair; Cachexia; Cataract; Cerebellar atrophy; Coarse hair; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous melanoma; Cutaneous photosensitivity; Decreased fertility; Decreased nerve conduction velocity; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hyperreflexia; Hypogonadism; Hypopigmented skin patches; Increased cellular sensitivity to UV light; Intellectual disability; Intellectual disability, progressive; Keratitis; Melanoma; Microcephaly; Microphthalmia; Neoplasm; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Pigmentary retinopathy; Poikiloderma; Prematurely aged appearance; Progeroid facial appearance; Retinopathy; Sensorineural hearing impairment; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Tiger tail banding; Urticaria; VentriculomegalyEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC416p13.12100%gene with protein product133520XPF, FANCQAbnormality of amino acid metabolism; Abnormality of chromosome stability; Abnormality of the dentition; Absent thumb; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Arteriosclerosis; Arthralgia; Ascites; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Biliary atresia; Bone marrow hypocellularity; Cachexia; Cataract; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Elevated hepatic transaminases; Erythema; Esophageal atresia; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; High pitched voice; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertension; Hypogonadism; Hypopigmented skin patches; Hypoplasia of dental enamel; Infantile onset; Intellectual disability; Intellectual disability, mild; Intellectual disability, progressive; Irregular hyperpigmentation; Keratitis; Lack of subcutaneous fatty tissue; Leukopenia; Low-set ears; Melanoma; Microcephaly; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Papule; Phenotypic variability; Poikiloderma; Poor coordination; Prematurely aged appearance; Pyridoxine-responsive sideroblastic anemia; Retinopathy; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short palpebral fissure; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Thrombocytopenia; Tracheoesophageal fistula; Urticaria; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
ERCC513q33.1100%gene with protein product133530ERCM2, XPGCAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in infancy; Decreased fetal movement; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Edema; EEG abnormality; Erythema; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Intellectual disability; Intellectual disability, progressive; Intrauterine growth retardation; Joint stiffness; Keratitis; Low-set ears; Melanoma; Microcephaly; Micrognathia; Microphthalmia; Muscular hypotonia; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Reduced tendon reflexes; Retinopathy; Rocker bottom foot; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Talipes equinovarus; Telangiectasia of the skin; Thin skin; Urticaria; Variable expressivity; Visual impairment; Wide nasal bridge
ERCC610q11.23100%gene with protein product609413CKN2Abnormal auditory evoked potentials; Abnormal nasal morphology; Abnormal peripheral myelination; Abnormality of immune system physiology; Abnormality of skin pigmentation; Abnormality of the hair; Abnormality of the pinna; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anhidrosis; Aplasia/Hypoplasia of the cerebellum; Areflexia; Arrhythmia; Arthrogryposis multiplex congenita; Ataxia; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Camptodactyly; Camptodactyly of finger; Carious teeth; Cataract; Cerebellar atrophy; Cerebellar calcifications; Cerebellar hypoplasia; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Conjunctivitis; Coxa valga; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Decreased lacrimation; Decreased nerve conduction velocity; Deep longitudinal plantar crease; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed eruption of primary teeth; Delayed myelination; Dental malocclusion; Dermal atrophy; Dry hair; Dry skin; Ectropion; Elbow flexion contracture; Elevated circulating follicle stimulating hormone level; Entropion; Everted lower lip vermilion; Failure to thrive; Feeding difficulties in infancy; Freckling; Generalized hypotonia; Gliosis; Gonadal hypoplasia; Hepatomegaly; Heterogeneous; Hirsutism; Hypermetropia; Hypertension; Hypertonia; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the iris; Hypoplastic iliac wing; Hypoplastic pelvis; Hyporeflexia; Increased cellular sensitivity to UV light; Infantile onset; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Ivory epiphyses of the phalanges of the hand; Joint contracture of the hand; Joint stiffness; Keratitis; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long philtrum; Loss of facial adipose tissue; Mandibular prognathia; Mental deterioration; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscle weakness; Muscular hypotonia; Neoplasm; Normal pressure hydrocephalus; Nystagmus; Oligomenorrhea; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic atrophy; Osteoporosis; Patchy demyelination of subcortical white matter; Peripheral dysmyelination; Photophobia; Pigmentary retinopathy; Pigmentation anomalies of sun-exposed skin; Poikiloderma; Polyneuropathy; Postnatal growth retardation; Progeroid facial appearance; Prominent metopic ridge; Prominent nasal bridge; Proteinuria; Reduced subcutaneous adipose tissue; Reduced tendon reflexes; Renal insufficiency; Rocker bottom foot; Second metatarsal posteriorly placed; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Severe failure to thrive; Severe global developmental delay; Severe short stature; Short neck; Short stature; Slender nose; Sloping forehead; Small for gestational age; Sparse hair; Spasticity; Splenomegaly; Square pelvis bone; Strabismus; Subcortical white matter calcifications; Telangiectasia; Thickened calvaria; Thin vermilion border; Tremor; Visual impairment; Wide intermamillary distance; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes
ERCC610q11.23100%gene with protein product609413CKN2Abnormal auditory evoked potentials; Abnormal nasal morphology; Abnormal peripheral myelination; Abnormality of immune system physiology; Abnormality of skin pigmentation; Abnormality of the hair; Abnormality of the pinna; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anhidrosis; Aplasia/Hypoplasia of the cerebellum; Areflexia; Arrhythmia; Arthrogryposis multiplex congenita; Ataxia; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Camptodactyly; Camptodactyly of finger; Carious teeth; Cataract; Cerebellar atrophy; Cerebellar calcifications; Cerebellar hypoplasia; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Conjunctivitis; Coxa valga; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Decreased lacrimation; Decreased nerve conduction velocity; Deep longitudinal plantar crease; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed eruption of primary teeth; Delayed myelination; Dental malocclusion; Dermal atrophy; Dry hair; Dry skin; Ectropion; Elbow flexion contracture; Elevated circulating follicle stimulating hormone level; Entropion; Everted lower lip vermilion; Failure to thrive; Feeding difficulties in infancy; Freckling; Generalized hypotonia; Gliosis; Gonadal hypoplasia; Hepatomegaly; Heterogeneous; Hirsutism; Hypermetropia; Hypertension; Hypertonia; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the iris; Hypoplastic iliac wing; Hypoplastic pelvis; Hyporeflexia; Increased cellular sensitivity to UV light; Infantile onset; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Ivory epiphyses of the phalanges of the hand; Joint contracture of the hand; Joint stiffness; Keratitis; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long philtrum; Loss of facial adipose tissue; Mandibular prognathia; Mental deterioration; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscle weakness; Muscular hypotonia; Neoplasm; Normal pressure hydrocephalus; Nystagmus; Oligomenorrhea; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic atrophy; Osteoporosis; Patchy demyelination of subcortical white matter; Peripheral dysmyelination; Photophobia; Pigmentary retinopathy; Pigmentation anomalies of sun-exposed skin; Poikiloderma; Polyneuropathy; Postnatal growth retardation; Progeroid facial appearance; Prominent metopic ridge; Prominent nasal bridge; Proteinuria; Reduced subcutaneous adipose tissue; Reduced tendon reflexes; Renal insufficiency; Rocker bottom foot; Second metatarsal posteriorly placed; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Severe failure to thrive; Severe global developmental delay; Severe short stature; Short neck; Short stature; Slender nose; Sloping forehead; Small for gestational age; Sparse hair; Spasticity; Splenomegaly; Square pelvis bone; Strabismus; Subcortical white matter calcifications; Telangiectasia; Thickened calvaria; Thin vermilion border; Tremor; Visual impairment; Wide intermamillary distance; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes
ERCC85q12.199.93%gene with protein product609412CKN1Abnormal auditory evoked potentials; Abnormality of skin pigmentation; Abnormality of the pinna; Abnormality of visual evoked potentials; Anhidrosis; Arrhythmia; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Basal ganglia calcification; Carious teeth; Cataract; Cerebral atrophy; Cryptorchidism; Cutaneous photosensitivity; Decreased lacrimation; Decreased nerve conduction velocity; Delayed eruption of primary teeth; Dementia; Dental malocclusion; Dry hair; Dry skin; Dysarthria; Freckling; Gait disturbance; Hepatomegaly; Heterogeneous; Hypermetropia; Hypertension; Hypogonadism; Hypoplasia of teeth; Hypoplastic iliac wing; Hypoplastic pelvis; Increased cellular sensitivity to UV light; Infantile onset; Intellectual disability; Intrauterine growth retardation; Ivory epiphyses of the phalanges of the hand; Kyphosis; Limitation of joint mobility; Loss of facial adipose tissue; Mandibular prognathia; Menstrual irregularities; Microcephaly; Micropenis; Muscle weakness; Normal pressure hydrocephalus; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Patchy demyelination of subcortical white matter; Peripheral dysmyelination; Pigmentary retinopathy; Polyneuropathy; Progeroid facial appearance; Proteinuria; Reduced subcutaneous adipose tissue; Renal insufficiency; Retinal pigment epithelial mottling; Seizures; Sensorineural hearing impairment; Severe postnatal growth retardation; Slender nose; Sparse hair; Splenomegaly; Square pelvis bone; Strabismus; Thickened calvaria; Thymic hormone decreased; Tremor
ETHE119q13.31100%gene with protein product608451Abnormality of extrapyramidal motor function; Abnormality of the retinal vasculature; Ataxia; Autosomal recessive inheritance; Chronic diarrhea; Cytochrome C oxidase-negative muscle fibers; Developmental regression; Encephalopathy; Ethylmalonic aciduria; Failure to thrive; Focal T2 hyperintense basal ganglia lesion; Generalized hypotonia; Global developmental delay; Intellectual disability; Lactic acidosis; Petechiae; Seizures
FASTKD22q33.399.99%gene with protein product612322KIAA0971Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
FOXRED111q24.2100%gene with protein product613622Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
FOXRED111q24.2100%gene with protein product613622Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
FRMD4A10p1399.84%gene with protein product616305FRMD4Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Ataxia; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Congenital microcephaly; Everted lower lip vermilion; Global developmental delay; Hirsutism; Intellectual disability; Long eyelashes; Low anterior hairline; Low-set ears; Narrow forehead; Posteriorly rotated ears; Protruding ear; Sparse hair; Strabismus; Thick eyebrow; Upper eyelid edema
FTL19q13.33100%gene with protein product134790Abnormality of metabolism/homeostasis; Anarthria; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Blepharospasm; Bradykinesia; Cataract; Cavitation of the basal ganglia; Chorea; Choreoathetosis; Congenital nuclear cataract; Decreased serum ferritin; Dementia; Disinhibition; Dysarthria; Dysphagia; Dysphonia; Dystonia; Emotional lability; Gait disturbance; Hyperreflexia; Hypomimic face; Increased serum ferritin; Laryngeal dystonia; Mutism; Neurodegeneration; Optic atrophy; Orofacial dyskinesia; Parkinsonism; Phenotypic variability; Progressive; Retinal degeneration; Rigidity; Spastic diplegia; Spasticity; Tremor
GABRA15q34100%gene with protein product137160Absence seizures; Ataxia; Atonic seizures; Autosomal dominant inheritance; Cutaneous photosensitivity; EEG abnormality; Epileptic encephalopathy; Febrile seizures; Focal clonic seizures; Generalized myoclonic seizures; Global developmental delay; Hemiclonic seizures; Intellectual disability; Muscular hypotonia; Neurodevelopmental delay; Obtundation status; Pschomotor retardation; Status epilepticus; Tremor
GABRB14p12100%gene with protein product137190Ataxia; Autosomal dominant inheritance; Cortical visual impairment; Developmental regression; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile onset; Seizures
GABRB315q12100%gene with protein product137192Abnormality of brainstem morphology; Aggressive behavior; Ataxia; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Dyskinesia; EEG with focal sharp slow waves; Encephalopathy; Epileptic encephalopathy; Falls; Generalized hypotonia; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hyperactivity; Infantile onset; Intellectual disability; Mental deterioration; Myoclonus; Personality disorder; Seizures
GABRG25q34100%gene with protein product137164Absence seizures; Ataxia; Atonic seizures; Autosomal dominant inheritance; Cutaneous photosensitivity; EEG abnormality; Febrile seizures; Focal clonic seizures; Focal seizures; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Muscular hypotonia; Neurodevelopmental delay; Obtundation status; Pschomotor retardation; Tremor; Variable expressivity
GAMT19p13.3100%gene with protein product601240Ataxia; Autosomal recessive inheritance; Delayed speech and language development; Global developmental delay; Hyperreflexia; Hypertonia; Infantile muscular hypotonia; Intellectual disability; Myoclonus; Progressive extrapyramidal movement disorder; Seizures
GBA1q2299.84%gene with protein productIncluded in this XomeDxSlice test, but please note that many disease alleles are not detectable by XomeDxSlice.606463GLUCAbdominal pain; Abnormal aortic arch morphology; Abnormal pattern of respiration; Adult onset; Akinesia; Anemia; Anorexia; Anteverted nares; Aortic valve calcification; Apathy; Apnea; Arthrogryposis multiplex congenita; Ascites; Aseptic necrosis; Ataxia; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Bulbar signs; Calcification of the aorta; Cardiomegaly; Cerebral atrophy; Congenital nonbullous ichthyosiform erythroderma; Cough; Death in infancy; Decreased beta-glucocerebrosidase protein and activity; Decreased body weight; Decreased fetal movement; Delayed puberty; Delayed skeletal maturation; Dementia; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dysphagia; Dyspnea; Dystonia; Ectropion; Encephalopathy; Epistaxis; Erlenmeyer flask deformity of the femurs; Esotropia; Everted lower lip vermilion; Everted upper lip vermilion; Failure to thrive; Fatigue; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Gait disturbance; Generalized myoclonic seizures; Gingival bleeding; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High palate; Horizontal nystagmus; Horizontal supranuclear gaze palsy; Hydrocephalus; Hydrops fetalis; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypersplenism; Hypertelorism; Hypertonia; Hypokinesia; Hypometric horizontal saccades; Increased antibody level in blood; Increased bone mineral density; Increased susceptibility to fractures; Interstitial pulmonary abnormality; Intracranial hemorrhage; Intrauterine growth retardation; Kyphosis; Low-set ears; Low-set, posteriorly rotated ears; Macular atrophy; Microcephaly; Micrognathia; Microtia; Mitral valve calcification; Motor delay; Multiple myeloma; Muscular hypotonia; Myoclonus; Narrow mouth; Neonatal death; Neurological speech impairment; Nonimmune hydrops fetalis; Oculomotor apraxia; Opacification of the corneal stroma; Open mouth; Ophthalmoplegia; Opisthotonus; Osteolysis; Osteopenia; Pancytopenia; Pathologic fracture; Pes cavus; Petechiae; Phenotypic variability; Polyhydramnios; Premature birth; Progressive neurologic deterioration; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Recurrent respiratory infections; Respiratory distress; Reticular hyperpigmentation; Retrognathia; Rigidity; Seizures; Short nose; Short stature; Slowed horizontal saccades; Spastic paraparesis; Spasticity; Splenomegaly; Stillbirth; Strabismus; Supranuclear ophthalmoplegia; Thoracic hypoplasia; Thrombocytopenia; Triangular face; Trismus; Vascular calcification; Ventriculomegaly; Vertebral compression fracturesPalmoplantar keratoderma plus congenital ichthyosis
GBA1q2299.84%gene with protein productIncluded in this XomeDxSlice test, but please note that many disease alleles are not detectable by XomeDxSlice.606463GLUCAbdominal pain; Abnormal aortic arch morphology; Abnormal pattern of respiration; Adult onset; Akinesia; Anemia; Anorexia; Anteverted nares; Aortic valve calcification; Apathy; Apnea; Arthrogryposis multiplex congenita; Ascites; Aseptic necrosis; Ataxia; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Bulbar signs; Calcification of the aorta; Cardiomegaly; Cerebral atrophy; Congenital nonbullous ichthyosiform erythroderma; Cough; Death in infancy; Decreased beta-glucocerebrosidase protein and activity; Decreased body weight; Decreased fetal movement; Delayed puberty; Delayed skeletal maturation; Dementia; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dysphagia; Dyspnea; Dystonia; Ectropion; Encephalopathy; Epistaxis; Erlenmeyer flask deformity of the femurs; Esotropia; Everted lower lip vermilion; Everted upper lip vermilion; Failure to thrive; Fatigue; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Gait disturbance; Generalized myoclonic seizures; Gingival bleeding; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High palate; Horizontal nystagmus; Horizontal supranuclear gaze palsy; Hydrocephalus; Hydrops fetalis; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypersplenism; Hypertelorism; Hypertonia; Hypokinesia; Hypometric horizontal saccades; Increased antibody level in blood; Increased bone mineral density; Increased susceptibility to fractures; Interstitial pulmonary abnormality; Intracranial hemorrhage; Intrauterine growth retardation; Kyphosis; Low-set ears; Low-set, posteriorly rotated ears; Macular atrophy; Microcephaly; Micrognathia; Microtia; Mitral valve calcification; Motor delay; Multiple myeloma; Muscular hypotonia; Myoclonus; Narrow mouth; Neonatal death; Neurological speech impairment; Nonimmune hydrops fetalis; Oculomotor apraxia; Opacification of the corneal stroma; Open mouth; Ophthalmoplegia; Opisthotonus; Osteolysis; Osteopenia; Pancytopenia; Pathologic fracture; Pes cavus; Petechiae; Phenotypic variability; Polyhydramnios; Premature birth; Progressive neurologic deterioration; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Recurrent respiratory infections; Respiratory distress; Reticular hyperpigmentation; Retrognathia; Rigidity; Seizures; Short nose; Short stature; Slowed horizontal saccades; Spastic paraparesis; Spasticity; Splenomegaly; Stillbirth; Strabismus; Supranuclear ophthalmoplegia; Thoracic hypoplasia; Thrombocytopenia; Triangular face; Trismus; Vascular calcification; Ventriculomegaly; Vertebral compression fracturesPalmoplantar keratoderma plus congenital ichthyosis
GFAP17q21.31100%gene with protein product137780Ataxia; Autosomal dominant inheritance; Bulbar signs; Developmental regression; Diffuse demyelination of the cerebral white matter; Hydrocephalus; Increased CSF protein; Infantile onset; Progressive macrocephaly; Seizures; Spasticity
GJA16q22.31100%gene with protein product121014ODDD, GJAL2-4 toe cutaneous syndactyly; 3-4 toe syndactyly; 4-5 finger syndactyly; Abnormal blistering of the skin; Abnormal cortical bone morphology; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the cerebral white matter; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the thorax; Absent middle phalanx of 5th finger; Alopecia; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the middle phalanges of the hand; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Bony paranasal bossing; Brachycephaly; Broad alveolar ridges; Broad columella; Broad long bones; Camptodactyly of finger; Carious teeth; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Club-shaped distal femur; Coarse facial features; Conductive hearing impairment; Congenital alopecia totalis; Congestive heart failure; Cranial hyperostosis; Craniofacial hyperostosis; Cubitus valgus; Curly hair; Cutaneous photosensitivity; Cyanosis; Delayed eruption of permanent teeth; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diabetes mellitus; Downslanted palpebral fissures; Dry hair; Dry skin; Dysarthria; Dystrophic fingernails; Epicanthus; Epidermal acanthosis; Erythema; External ear malformation; Facial hyperostosis; Facial palsy; Failure to thrive; Fifth finger distal phalanx clinodactyly; Fine hair; Finger syndactyly; Fingernail dysplasia; First degree atrioventricular block; Flared metaphysis; Fragile nails; Frontal bossing; Gait disturbance; Generalized hyperkeratosis; Glaucoma; High forehead; High hypermetropia; Hip dislocation; Hyperactive deep tendon reflexes; Hypergranulosis; Hypermelanotic macule; Hyperreflexia; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic aortic arch; Hypoplastic left heart; Hypotelorism; Hypotrichosis; Infantile onset; Inlet ventricular septal defect; Intellectual disability; Joint contracture of the 5th finger; Large earlobe; Long nose; Long philtrum; Low-set ears; Macrocephaly; Macrodontia of permanent maxillary central incisor; Mandibular prognathia; Median cleft lip; Metaphyseal dysplasia; Microcephaly; Microcornea; Microdontia; Micrognathia; Microphthalmia; Mild global developmental delay; Mixed hearing impairment; Muscle weakness; Myopia; Nail dysplasia; Narrow mouth; Narrow nasal bridge; Narrow nose; Nasal obstruction; Neurogenic bladder; Optic atrophy; Osteopetrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Paraparesis; Patchy palmoplantar keratoderma; Patchy sclerosis of finger phalanx; Persistent pupillary membrane; Phenotypic variability; Premature loss of primary teeth; Premature loss of teeth; Primum atrial septal defect; Pulmonary arterial hypertension; Reduced number of teeth; Seizures; Selective tooth agenesis; Short 5th finger; Short foot; Short middle phalanx of the 5th finger; Short nose; Short palpebral fissure; Short stature; Skeletal dysplasia; Skin rash; Slow-growing hair; Small hand; Sparse eyelashes; Sparse hair; Spastic paraparesis; Spasticity; Telecanthus; Tetraparesis; Thin anteverted nares; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Vertebral hyperostosis; Visual impairment; Weight loss; Wide nasal bridgeHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis
GJA16q22.31100%gene with protein product121014ODDD, GJAL2-4 toe cutaneous syndactyly; 3-4 toe syndactyly; 4-5 finger syndactyly; Abnormal blistering of the skin; Abnormal cortical bone morphology; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the cerebral white matter; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the thorax; Absent middle phalanx of 5th finger; Alopecia; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the middle phalanges of the hand; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Bony paranasal bossing; Brachycephaly; Broad alveolar ridges; Broad columella; Broad long bones; Camptodactyly of finger; Carious teeth; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Club-shaped distal femur; Coarse facial features; Conductive hearing impairment; Congenital alopecia totalis; Congestive heart failure; Cranial hyperostosis; Craniofacial hyperostosis; Cubitus valgus; Curly hair; Cutaneous photosensitivity; Cyanosis; Delayed eruption of permanent teeth; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diabetes mellitus; Downslanted palpebral fissures; Dry hair; Dry skin; Dysarthria; Dystrophic fingernails; Epicanthus; Epidermal acanthosis; Erythema; External ear malformation; Facial hyperostosis; Facial palsy; Failure to thrive; Fifth finger distal phalanx clinodactyly; Fine hair; Finger syndactyly; Fingernail dysplasia; First degree atrioventricular block; Flared metaphysis; Fragile nails; Frontal bossing; Gait disturbance; Generalized hyperkeratosis; Glaucoma; High forehead; High hypermetropia; Hip dislocation; Hyperactive deep tendon reflexes; Hypergranulosis; Hypermelanotic macule; Hyperreflexia; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic aortic arch; Hypoplastic left heart; Hypotelorism; Hypotrichosis; Infantile onset; Inlet ventricular septal defect; Intellectual disability; Joint contracture of the 5th finger; Large earlobe; Long nose; Long philtrum; Low-set ears; Macrocephaly; Macrodontia of permanent maxillary central incisor; Mandibular prognathia; Median cleft lip; Metaphyseal dysplasia; Microcephaly; Microcornea; Microdontia; Micrognathia; Microphthalmia; Mild global developmental delay; Mixed hearing impairment; Muscle weakness; Myopia; Nail dysplasia; Narrow mouth; Narrow nasal bridge; Narrow nose; Nasal obstruction; Neurogenic bladder; Optic atrophy; Osteopetrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Paraparesis; Patchy palmoplantar keratoderma; Patchy sclerosis of finger phalanx; Persistent pupillary membrane; Phenotypic variability; Premature loss of primary teeth; Premature loss of teeth; Primum atrial septal defect; Pulmonary arterial hypertension; Reduced number of teeth; Seizures; Selective tooth agenesis; Short 5th finger; Short foot; Short middle phalanx of the 5th finger; Short nose; Short palpebral fissure; Short stature; Skeletal dysplasia; Skin rash; Slow-growing hair; Small hand; Sparse eyelashes; Sparse hair; Spastic paraparesis; Spasticity; Telecanthus; Tetraparesis; Thin anteverted nares; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Vertebral hyperostosis; Visual impairment; Weight loss; Wide nasal bridgeHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis
GJC21q42.1398.69%gene with protein product608803GJA12Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cellulitis; Cerebral atrophy; Cerebral hypomyelination; Choreoathetosis; Cognitive impairment; Constipation; Decreased motor nerve conduction velocity; Demyelinating motor neuropathy; Distal sensory impairment; Dysarthria; Dysmetria; Dystonia; Facial palsy; Global developmental delay; Head titubation; Hyperreflexia; Incomplete penetrance; Infantile onset; Intention tremor; Leukodystrophy; Lower limb spasticity; Lymphedema; Motor delay; Muscular hypotonia of the trunk; Myopia; Optic atrophy; Pes cavus; Poor speech; Progressive spasticity; Recurrent skin infections; Rigidity; Rotary nystagmus; Scoliosis; Seizures; Sensorineural hearing impairment; Sensory axonal neuropathy; Slow saccadic eye movements; Spastic gait; Spastic paraparesis; Spastic paraplegia; Upper limb spasticity; Urinary incontinence
GLB13p22.3100%gene with protein product611458ELNR1Abnormal heart valve morphology; Abnormality of blood and blood-forming tissues; Abnormality of the face; Abnormality of the liver; Abnormality of the spleen; Abnormality of the urinary system; Angiokeratoma corporis diffusum; Anterior beaking of lumbar vertebrae; Aortic valve stenosis; Ataxia; Autosomal recessive inheritance; Beaking of vertebral bodies; Carious teeth; Cerebral atrophy; Cerebral degeneration; Cervical myelopathy; Cervical subluxation; Cherry red spot of the macula; Coarse facial features; Congestive heart failure; Constricted iliac wings; Coxa valga; Death in infancy; Decreased beta-galactosidase activity; Depressed nasal ridge; Developmental stagnation; Diffuse cerebral atrophy; Dilated cardiomyopathy; Disproportionate short-trunk short stature; Dystonia; Epiphyseal deformities of tubular bones; Flared iliac wings; Flaring of rib cage; Foam cells; Frontal bossing; Gait disturbance; Generalized myoclonic seizures; Genu valgum; Gingival overgrowth; Grayish enamel; Hearing impairment; Hepatomegaly; Hyperlordosis; Hypertelorism; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoplasia of the odontoid process; Hypoplastic acetabulae; Hypoplastic vertebral bodies; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intimal thickening in the coronary arteries; Joint laxity; Joint stiffness; Juvenile onset; Keratan sulfate excretion in urine; Kyphosis; Mandibular prognathia; Metaphyseal widening; Opacification of the corneal stroma; Optic atrophy; Osteoporosis; Ovoid vertebral bodies; Platyspondyly; Pointed proximal second through fifth metacarpals; Progressive psychomotor deterioration; Prominent sternum; Recurrent upper respiratory tract infections; Restrictive ventilatory defect; Scoliosis; Sea-blue histiocytosis; Severe short stature; Short neck; Short stature; Skeletal muscle atrophy; Slurred speech; Spastic tetraplegia; Splenomegaly; Thickened ribs; Ulnar deviation of the wrist; Vacuolated lymphocytes; Ventriculomegaly; Wide mouth; Widely spaced teeth
GLRA15q33.1100%gene with protein product138491STHEApnea; Aspiration; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Esophagitis; Exaggerated startle response; Fasciculations; Frequent falls; Gait disturbance; Gastroesophageal reflux; Hiatus hernia; Hip dislocation; Hyperreflexia; Hypertonia; Hypokinesia; Infantile onset; Inguinal hernia; Joint stiffness; Muscle stiffness; Myoclonus; Rigidity; Seizures; Sleep disturbance; Spasticity; Umbilical hernia
GLRB4q32.198.09%gene with protein product138492Ataxia; Autosomal recessive inheritance; Esophagitis; Exaggerated startle response; Fasciculations; Gait disturbance; Gastroesophageal reflux; Hiatus hernia; Hyperreflexia; Hypertonia; Joint stiffness; Muscle stiffness; Myoclonus; Rigidity; Sleep disturbance; Spasticity; Umbilical hernia
GMPPB3p21.31100%gene with protein product615320Abnormality of the voice; Absent speech; Ataxia; Autosomal recessive inheritance; Cataract; Cerebellar hypoplasia; Cleft palate; Cognitive impairment; Congenital muscular dystrophy; Congenital onset; Decreased fetal movement; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Exercise intolerance; Feeding difficulties; Gait disturbance; Generalized hypotonia; Generalized limb muscle atrophy; Glaucoma; Global developmental delay; Hydrocephalus; Hypertonia; Hypoplasia of the pons; Intellectual disability; Intellectual disability, severe; Microcephaly; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathic facies; Myopathy; Myopia; Neurological speech impairment; Oligohydramnios; Optic atrophy; Poor head control; Proximal muscle weakness; Seizures; Sensorineural hearing impairment; Strabismus; Variable expressivity; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
GOSR217q21.3299.98%gene with protein product604027Absence seizures; Areflexia; Ataxia; Atonic seizures; Autosomal recessive inheritance; Difficulty walking; Dysarthria; Elevated serum creatine phosphokinase; Myoclonus; Progressive; Scoliosis; Tremor
GPHN14q23.399.96%gene with protein product603930Apnea; Aspiration; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Esophagitis; Exaggerated startle response; Fasciculations; Feeding difficulties; Frequent falls; Gait disturbance; Gastroesophageal reflux; Generalized tonic-clonic seizures; Hiatus hernia; Hip dislocation; Hyperreflexia; Hypertonia; Hypokinesia; Infantile onset; Inguinal hernia; Joint stiffness; Molybdenum cofactor deficiency; Muscle stiffness; Muscular hypotonia of the trunk; Myoclonus; Polymicrogyria; Poor eye contact; Poor head control; Rigidity; Seizures; Sleep disturbance; Spasticity; Spontaneous abortion; Umbilical hernia
GPI19q13.11100%gene with protein product172400Ataxia; Autosomal recessive inheritance; Cholecystitis; Decreased glucosephosphate isomerase activity; Impaired neutrophil bactericidal activity; Intellectual disability; Jaundice; Muscle weakness; Nonspherocytic hemolytic anemia; Pigment gallstones; Sensory ataxia; Splenomegaly; Spontaneous hemolytic crisesHemolytic Anemia
GRN17q21.3199.99%gene with protein product138945Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Aggressive behavior; Agitation; Alexia; Anxiety; Apathy; Aphasia; Apraxia; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral cortical atrophy; Collectionism; Depressivity; Dilation of lateral ventricles; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Echolalia; EEG abnormality; EEG with continuous slow activity; Emotional blunting; Frontotemporal cerebral atrophy; Frontotemporal dementia; Generalized myoclonic seizures; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Hypersexuality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Mutism; Neuronal loss in central nervous system; Optic atrophy; Parkinsonism; Perseveration; Personality changes; Polyphagia; Poor speech; Progressive language deterioration; Rapidly progressive; Repetitive compulsive behavior; Restlessness; Restrictive behavior; Retinal dystrophy; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Visual impairment
GSS20q11.22100%gene with protein product601002Ataxia; Autosomal recessive inheritance; Chronic metabolic acidosis; Dysarthria; Glutathione synthetase deficiency; Glyoxalase deficiency; Hemolytic anemia; Increased level of L-pyroglutamic acid in urine; Intellectual disability; Intention tremor; Neutropenia; Pigmentary retinopathy; Psychotic mentation; Seizures; Spastic tetraparesisHemolytic Anemia
HACE16q16.399.87%gene with protein product610876Ataxia; Autosomal recessive inheritance; Broad-based gait; Cerebral atrophy; Developmental regression; Elevated urinary catecholamines; Generalized hypotonia; Global developmental delay; Intellectual disability; Lumbar hyperlordosis; Muscular hypotonia; Neoplasm of the nervous system; Retinal dystrophy; StrabismusObesity
HARS5q31.3100%gene with protein product142810USH3BAbnormal cochlea morphology; Abnormal electroretinogram; Absent Achilles reflex; Astigmatism; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Delayed gross motor development; Distal sensory impairment; Hammertoe; Hearing impairment; Hemianopia; High hypermetropia; Horizontal nystagmus; Iris hypopigmentation; Nyctalopia; Optic disc pallor; Pes cavus; Photophobia; Scotoma; Sensorineural hearing impairment; Steppage gait; Truncal ataxia; Variable expressivity; Vestibular hypofunction; Visual impairment; Visual lossDisorders of Sex Development
HEPACAM11q24.2100%gene with protein product611642Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Clumsiness; Diffuse spongiform leukoencephalopathy; Diffuse swelling of cerebral white matter; Dysarthria; Generalized hypotonia; Infantile onset; Intellectual disability; Intellectual disability, mild; Macrocephaly; Megalencephaly; Motor delay; Progressive neurologic deterioration; Seizures; Slow progression; Spasticity; Ventriculomegaly
HEPACAM11q24.2100%gene with protein product611642Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Clumsiness; Diffuse spongiform leukoencephalopathy; Diffuse swelling of cerebral white matter; Dysarthria; Generalized hypotonia; Infantile onset; Intellectual disability; Intellectual disability, mild; Macrocephaly; Megalencephaly; Motor delay; Progressive neurologic deterioration; Seizures; Slow progression; Spasticity; Ventriculomegaly
HEXB5q13.399.12%gene with protein product606873Abnormality of glycosphingolipid metabolism; Ataxia; Blindness; Cardiomegaly; Cherry red spot of the macula; Chronic diarrhea; Coarse facial features; Dysarthria; Episodic abdominal pain; Fasciculations; Hepatosplenomegaly; Hyperhidrosis; Hyperreflexia; Hypohidrosis; Impaired thermal sensitivity; Impotence; Macrocephaly; Macroglossia; Muscle weakness; Orthostatic hypotension; Progressive psychomotor deterioration; Skeletal muscle atrophy; Urinary incontinence
HTRA110q26.1399.98%gene with protein product602194PRSS11Abnormality of extrapyramidal motor function; Alopecia; Arteriosclerosis of small cerebral arteries; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Dementia; Diffuse demyelination of the cerebral white matter; Diffuse white matter abnormalities; Dysarthria; Gait disturbance; Hyperintensity of cerebral white matter on MRI; Hyperreflexia; Leukoencephalopathy; Low back pain; Mental deterioration; Perivascular spaces; Progressive encephalopathy; Pseudobulbar signs; Recurrent subcortical infarcts; Rigidity; Spasticity; Status cribrosum; Urinary incontinence
HYLS111q24.2100%gene with protein product610693Abnormal cortical gyration; Abnormality of cardiovascular system morphology; Abnormality of the sense of smell; Abnormality of the vagina; Absent septum pellucidum; Accessory spleen; Adrenal gland dysgenesis; Agenesis of corpus callosum; Agenesis of the diaphragm; Apnea; Arrhinencephaly; Ataxia; Autosomal recessive inheritance; Bifid nose; Bifid uvula; Biparietal narrowing; Broad neck; Cerebellar vermis hypoplasia; Dandy-Walker malformation; Deeply set eye; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Gingival cleft; Global developmental delay; Heterotopia; Hydrocephalus; Intellectual disability; Intrauterine growth retardation; Laryngomalacia; Long face; Low-set, posteriorly rotated ears; Median cleft lip; Micrognathia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Omphalocele; Polyhydramnios; Postaxial hand polydactyly; Preaxial hand polydactyly; Premature birth; Proximal tibial hypoplasia; Retrognathia; Submucous cleft hard palate; Tracheal atresia; Unilateral cleft lip; Ventricular septal defect
IFT14016p13.3100%gene with protein product614620WDTC2Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the ribs; Abnormality of the sternum; Abnormality of the testis; Anemia; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Brachydactyly; Cataract; Cholestasis; Conductive hearing impairment; Cone-shaped epiphysis; Encephalocele; Glaucoma; Hemiplegia/hemiparesis; Hepatic fibrosis; Hepatomegaly; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the capital femoral epiphysis; Infantile onset; Intellectual disability; Keratoconus; Micromelia; Muscular hypotonia; Narrow chest; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Renal cyst; Renal dysplasia; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Short femoral neck; Short foot; Short phalanx of finger; Short stature; Short thorax; Skeletal dysplasia; Stage 5 chronic kidney disease; Visual loss; Wide nasal bridgeHeterotaxy ; Short-Rib Thoracic Dysplasia
INPP5E9q34.3100%gene with protein product613037JBTS1Abnormality of saccadic eye movements; Abnormality of the foot; Agenesis of cerebellar vermis; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Childhood-onset truncal obesity; Chorioretinal coloboma; Congenital hepatic fibrosis; Delayed speech and language development; Dysgenesis of the cerebellar vermis; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hemifacial spasm; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Highly arched eyebrow; Hyperactivity; Hyperreflexia; Hypoplasia of the brainstem; Impaired smooth pursuit; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Long face; Low-set ears; Macrocephaly; Macroglossia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Neonatal breathing dysregulation; Nephropathy; Nystagmus; Oculomotor apraxia; Optic nerve coloboma; Phenotypic variability; Postaxial hand polydactyly; Prominent forehead; Protruding tongue; Ptosis; Retinal dystrophy; Self-mutilation; Triangular-shaped open mouth; Truncal obesity; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
INPP5E9q34.3100%gene with protein product613037JBTS1Abnormality of saccadic eye movements; Abnormality of the foot; Agenesis of cerebellar vermis; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Childhood-onset truncal obesity; Chorioretinal coloboma; Congenital hepatic fibrosis; Delayed speech and language development; Dysgenesis of the cerebellar vermis; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hemifacial spasm; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Highly arched eyebrow; Hyperactivity; Hyperreflexia; Hypoplasia of the brainstem; Impaired smooth pursuit; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Long face; Low-set ears; Macrocephaly; Macroglossia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Neonatal breathing dysregulation; Nephropathy; Nystagmus; Oculomotor apraxia; Optic nerve coloboma; Phenotypic variability; Postaxial hand polydactyly; Prominent forehead; Protruding tongue; Ptosis; Retinal dystrophy; Self-mutilation; Triangular-shaped open mouth; Truncal obesity; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
INPP5E9q34.3100%gene with protein product613037JBTS1Abnormality of saccadic eye movements; Abnormality of the foot; Agenesis of cerebellar vermis; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Childhood-onset truncal obesity; Chorioretinal coloboma; Congenital hepatic fibrosis; Delayed speech and language development; Dysgenesis of the cerebellar vermis; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hemifacial spasm; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Highly arched eyebrow; Hyperactivity; Hyperreflexia; Hypoplasia of the brainstem; Impaired smooth pursuit; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Long face; Low-set ears; Macrocephaly; Macroglossia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Neonatal breathing dysregulation; Nephropathy; Nystagmus; Oculomotor apraxia; Optic nerve coloboma; Phenotypic variability; Postaxial hand polydactyly; Prominent forehead; Protruding tongue; Ptosis; Retinal dystrophy; Self-mutilation; Triangular-shaped open mouth; Truncal obesity; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
INPP5E9q34.3100%gene with protein product613037JBTS1Abnormality of saccadic eye movements; Abnormality of the foot; Agenesis of cerebellar vermis; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Childhood-onset truncal obesity; Chorioretinal coloboma; Congenital hepatic fibrosis; Delayed speech and language development; Dysgenesis of the cerebellar vermis; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hemifacial spasm; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Highly arched eyebrow; Hyperactivity; Hyperreflexia; Hypoplasia of the brainstem; Impaired smooth pursuit; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Long face; Low-set ears; Macrocephaly; Macroglossia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Neonatal breathing dysregulation; Nephropathy; Nystagmus; Oculomotor apraxia; Optic nerve coloboma; Phenotypic variability; Postaxial hand polydactyly; Prominent forehead; Protruding tongue; Ptosis; Retinal dystrophy; Self-mutilation; Triangular-shaped open mouth; Truncal obesity; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
INPP5K17p13.399.99%gene with protein product607875Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of finger; Abnormality of the cerebellar vermis; Abnormality of the metacarpal bones; Aplasia/Hypoplasia involving the skeletal musculature; Ataxia; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Brachydactyly; Cataract; Cerebellar hypoplasia; Coxa valga; Dysarthria; Dyskinesia; Dysphonia; Elevated serum creatine phosphokinase; External genital hypoplasia; Generalized hypotonia; Global developmental delay; Gowers sign; Hip dislocation; Hip dysplasia; Hyperlordosis; Hypogonadism; Increased adipose tissue; Intellectual disability; Metatarsus valgus; Motor delay; Muscle flaccidity; Muscle stiffness; Muscular dystrophy; Muscular hypotonia; Myopathy; Nystagmus; Pectus carinatum; Progressive; Rigidity; Scoliosis; Severe short stature; Short palm; Short stature; Skeletal muscle atrophy; Spasticity; Specific learning disability; Spinal rigidity; Strabismus; Toe walking
ITM2B13q14.299.99%gene with protein product603904BRI2Ataxia; Autosomal dominant inheritance; Cerebral amyloid angiopathy; Dementia; Hearing impairment; Hypertonia; Intention tremor; Neurofibrillary tangles; Optic disc pallor; Photophobia; Posterior polar cataract; Progressive neurologic deterioration; Psychosis; Retinal dystrophy; Rigidity; Spasticity; Tremor
ITPR13p26.199.99%gene with protein product147265SCA15, SCA16, SCA29Abnormality of movement; Aniridia; Ataxia; Autosomal recessive inheritance; Cerebellar hypoplasia; Global developmental delay; Hypoplasia of the iris; Intellectual disability; Mask-like facies; Motor delay; Muscular hypotonia; Nystagmus; Postural tremor; Scanning speech; Slurred speech; Visual impairment
ITPR13p26.199.99%gene with protein product147265SCA15, SCA16, SCA29Abnormality of movement; Aniridia; Ataxia; Autosomal recessive inheritance; Cerebellar hypoplasia; Global developmental delay; Hypoplasia of the iris; Intellectual disability; Mask-like facies; Motor delay; Muscular hypotonia; Nystagmus; Postural tremor; Scanning speech; Slurred speech; Visual impairment
KCNA112p13.32100%gene with protein product176260AEMKAbnormality of movement; Abnormality of the hand; Ataxia; Autosomal dominant inheritance; Babinski sign; Blurred vision; Dysarthria; Elevated serum creatine phosphokinase; EMG abnormality; Episodic ataxia; Headache; Hyperreflexia; Juvenile onset; Myokymia; Slurred speech; Spastic gait; Tremor; Type 1 muscle fiber predominance; Variable expressivity; Vertigo
KCNA21p13.3100%gene with protein product176262Ataxia; Autosomal dominant inheritance; Epileptic encephalopathy; Infantile onset; Intellectual disability; Myoclonus; Seizures; Tremor
KCNJ101q23.2100%gene with protein product602208Abnormality of metabolism/homeostasis; Abnormality of the mitochondrion; Abnormality of the renal tubule; Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cochlear malformation; Compensated hypothyroidism; Congenital sensorineural hearing impairment; Delayed speech and language development; Dysdiadochokinesis; Enlarged vestibular aqueduct; Enuresis; Failure to thrive; Generalized hypotonia; Global developmental delay; Goiter; Hyperaldosteronism; Hypocalciuria; Hypokalemia; Hypokalemic metabolic alkalosis; Hypomagnesemia; Hypoplasia of the cochlea; Hypothyroidism; Increased circulating renin level; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intention tremor; Muscular hypotonia; Polydipsia; Polyuria; Renal potassium wasting; Renal salt wasting; Renal sodium wasting; Salt craving; Seizures; Sensorineural hearing impairment; Thyroid carcinoma; Vestibular dysfunction
KIAA055616p12.1100%gene with protein productFormer name = KATNIP616650KATNIPAnteverted nares; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Central hypothyroidism; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Congenital onset; Episodic tachypnea; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Global developmental delay; Growth hormone deficiency; Hypertelorism; Inferior vermis hypoplasia; Intellectual disability; Long face; Micropenis; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Panhypopituitarism; Ptosis; Recurrent upper respiratory tract infections; Short stature
KIAA058614q23.195.7%gene with protein product610178Abnormality of eye movement; Abnormality of the pinna; Anencephaly; Aplastic clavicles; Apnea; Ataxia; Atrial septal defect; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Cleft palate; Congenital diaphragmatic hernia; Depressed nasal bridge; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hyporeflexia; Intellectual disability; Long face; Low-set ears; Micromelia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Nystagmus; Oculomotor apraxia; Polyhydramnios; Polymicrogyria; Postaxial polydactyly; Preaxial polydactyly; Pulmonary hypoplasia; Retinal coloboma; Short neck; Short ribs; TachypneaShort-Rib Thoracic Dysplasia
KIF1A2q37.3100%gene with protein product601255ATSV, C2orf20, SPG30Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of eye movement; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of saccadic eye movements; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Abnormality of the palate; Abnormality of upper lip; Acral ulceration leading to autoamputation of digits; Anhidrosis; Ankle clonus; Anteverted nares; Areflexia; Ataxia; Atrophy/Degeneration affecting the brainstem; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Biparietal narrowing; Cerebellar atrophy; Cerebral cortical atrophy; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Distal amyotrophy; Distal sensory impairment; Drowsiness; Dysmetria; Dystrophic fingernails; Dystrophic toenail; Edema of the lower limbs; Epicanthus; Episodic hyperhidrosis; External ear malformation; Feeding difficulties; Feeding difficulties in infancy; Foot acroosteolysis; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hydrocephalus; Hyperhidrosis; Hyperlordosis; Hyperreflexia; Hyporeflexia; Hypsarrhythmia; Infantile onset; Infantile spasms; Intellectual disability, severe; Leg muscle stiffness; Limitation of joint mobility; Lower limb amyotrophy; Lower limb hyperreflexia; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Malar flattening; Microcephaly; Midface retrusion; Open mouth; Optic atrophy; Osteolytic defects of the phalanges of the hand; Painless fractures due to injury; Palpebral edema; Paronychia; Peripheral axonal neuropathy; Peripheral edema; Peripheral neuropathy; Porencephalic cyst; Progressive; Progressive spastic paraplegia; Recurrent respiratory infections; Reduced bone mineral density; Scissor gait; Sensorimotor neuropathy; Severe muscular hypotonia; Short nose; Skeletal muscle atrophy; Slow progression; Spastic gait; Spastic paraplegia; Tapered finger; Unsteady gait; Urinary bladder sphincter dysfunction; Variable expressivity; Ventriculomegaly; Visual loss; Wormian bones
KLLN10q23100%gene with protein product612105Abnormality of buccal mucosa; Abnormality of the gingiva; Abnormality of the penis; Adenoma sebaceum; Ataxia; Breast carcinoma; Cavernous hemangioma; Cognitive impairment; Colorectal polyposis; Conjunctival hamartoma; Furrowed tongue; Generalized hyperkeratosis; Global developmental delay; Goiter; Hamartoma; Hamartomatous polyposis; Intellectual disability; Lipoma; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Palmoplantar keratoderma; Papilloma; Papule; Renal neoplasm; Subcutaneous nodule; Trichilemmoma
LETM14p16.3100%gene with protein product604407Abnormal form of the vertebral bodies; Abnormal heart valve morphology; Abnormal sternal ossification; Abnormality of the kidney; Abnormality of the pinna; Absent septum pellucidum; Accessory spleen; Aplasia cutis congenita of scalp; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Ataxia; Atrial septal defect; Autosomal dominant inheritance; Calvarial skull defect; Cavum septum pellucidum; Cleft palate; Cleft upper lip; Congenital diaphragmatic hernia; Convex nasal ridge; Craniofacial asymmetry; Cryptorchidism; Decreased fetal movement; Decreased muscle mass; Delayed skeletal maturation; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Ectopia pupillae; Epicanthus; Failure to thrive; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemangioma; High anterior hairline; High forehead; Highly arched eyebrow; Hip dislocation; Hyperconvex fingernails; Hypertelorism; Hypodontia; Hypoplastic pubic rami; Hypospadias; Intellectual disability, severe; Intrauterine growth retardation; Iris coloboma; Kyphosis; Low posterior hairline; Low-set, posteriorly rotated ears; Malrotation of small bowel; Metatarsus adductus; Microcephaly; Micrognathia; Microtia; Muscular hypotonia; Nystagmus; Optic atrophy; Periventricular cysts; Preauricular pit; Preauricular skin tag; Preaxial hand polydactyly; Precocious puberty; Prominent glabella; Proptosis; Pseudoepiphyses of the metacarpals; Ptosis; Radioulnar synostosis; Rib fusion; Rib segmentation abnormalities; Rieger anomaly; Sacral dimple; Scoliosis; Seizures; Severe postnatal growth retardation; Short hallux; Short philtrum; Short stature; Short thumb; Short upper lip; Small for gestational age; Split hand; Sporadic; Stenosis of the external auditory canal; Stereotypy; Strabismus; Talipes equinovarus; Tethered cord; Ventricular septal defect; Ventriculomegaly; Vertebral fusion; Wide nasal bridge
LMBRD16q1397.31%gene with protein product612625C6orf209Ataxia; Autosomal recessive inheritance; Cystathioninemia; Cystathioninuria; Decreased adenosylcobalamin; Decreased methionine synthase activity; Decreased methylcobalamin; Developmental regression; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Glossitis; High palate; Homocystinuria; Hyperhomocystinemia; Incoordination; Infantile onset; Lethargy; Low-set ears; Megaloblastic anemia; Megaloblastic bone marrow; Methylmalonic acidemia; Methylmalonic aciduria; Microtia; Muscular hypotonia; Neutropenia; Pancytopenia; Psychosis; Seizures; Skin rash; Stomatitis; Thin upper lip vermilion; Thrombocytopenia
LMNB15q23.2100%gene with protein product150340Abnormal pyramidal signs; Abnormality of the urinary system; Adult onset; Ataxia; Autonomic bladder dysfunction; Autonomic erectile dysfunction; Autosomal dominant inheritance; Babinski sign; Constipation; Corpus callosum atrophy; Decreased sweating due to autonomic dysfunction; Depressivity; Diffuse leukoencephalopathy; Dilatation of the bladder; Gait disturbance; Gliosis; Hyperreflexia; Hypotension; Impotence; Leukodystrophy; Nystagmus; Orthostatic hypotension due to autonomic dysfunction; Personality changes; Progressive; Progressive neurologic deterioration; Pseudobulbar paralysis; Spasticity; Symmetric peripheral demyelination; Tetraparesis; Tremor; Urinary urgency
LMNB15q23.2100%gene with protein product150340Abnormal pyramidal signs; Abnormality of the urinary system; Adult onset; Ataxia; Autonomic bladder dysfunction; Autonomic erectile dysfunction; Autosomal dominant inheritance; Babinski sign; Constipation; Corpus callosum atrophy; Decreased sweating due to autonomic dysfunction; Depressivity; Diffuse leukoencephalopathy; Dilatation of the bladder; Gait disturbance; Gliosis; Hyperreflexia; Hypotension; Impotence; Leukodystrophy; Nystagmus; Orthostatic hypotension due to autonomic dysfunction; Personality changes; Progressive; Progressive neurologic deterioration; Pseudobulbar paralysis; Spasticity; Symmetric peripheral demyelination; Tetraparesis; Tremor; Urinary urgency
LRPPRC2p2199.97%gene with protein product607544LSFCAnteverted nares; Ataxia; Autosomal recessive inheritance; CNS demyelination; Delayed speech and language development; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Highly arched eyebrow; Hirsutism; Hyperglycemia; Hypertelorism; Hypoglycemia; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased serum lactate; Infantile onset; Lactic acidosis; Low anterior hairline; Malar flattening; Microvesicular hepatic steatosis; Midface retrusion; Peripheral demyelination; Prominent forehead; Strabismus; Tachypnea; Tremor; Wide nasal bridge
LYRM75q23.3-q31.188.47%gene with protein product615831C5orf31Abnormality of the periventricular white matter; Anemia; Ataxia; Autosomal recessive inheritance; Brisk reflexes; Cerebral atrophy; Developmental regression; Dysarthria; Exotropia; External ophthalmoplegia; Failure to thrive; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypoplasia of the corpus callosum; Increased serum lactate; Intellectual disability; Lactic acidosis; Lethargy; Muscle weakness; Nystagmus; Optic disc pallor; Progressive; Rapidly progressive; Respiratory failure; Spastic tetraparesis
MBD52q23.2100%gene with protein product611472Abnormality of lower lip; Aggressive behavior; Astigmatism; Ataxia; Autosomal dominant inheritance; Brachycephaly; Broad forehead; Bulbous nose; Clinodactyly of the 5th finger; Coarse facial features; Constipation; Cupped ear; Delayed speech and language development; Downturned corners of mouth; Esotropia; Everted lower lip vermilion; Febrile seizures; Feeding difficulties in infancy; Frontal bossing; Generalized hirsutism; Highly arched eyebrow; Hyperactivity; Hypermetropia; Intellectual disability; Intellectual disability, severe; Language impairment; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Microtia; Motor delay; Muscular hypotonia; Myopia; Open mouth; Paroxysmal bursts of laughter; Polyphagia; Postnatal growth retardation; Prominent nose; Protruding ear; Retrognathia; Sandal gap; Seizures; Self-injurious behavior; Short attention span; Short chin; Short foot; Short nose; Short palm; Short stature; Sleep disturbance; Small hand; Stereotypy; Synophrys; Tented upper lip vermilion; Thick eyebrow; Thin upper lip vermilion; Visual impairment; Wide mouth; Widely spaced teeth
MBD52q23.2100%gene with protein product611472Abnormality of lower lip; Aggressive behavior; Astigmatism; Ataxia; Autosomal dominant inheritance; Brachycephaly; Broad forehead; Bulbous nose; Clinodactyly of the 5th finger; Coarse facial features; Constipation; Cupped ear; Delayed speech and language development; Downturned corners of mouth; Esotropia; Everted lower lip vermilion; Febrile seizures; Feeding difficulties in infancy; Frontal bossing; Generalized hirsutism; Highly arched eyebrow; Hyperactivity; Hypermetropia; Intellectual disability; Intellectual disability, severe; Language impairment; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Microtia; Motor delay; Muscular hypotonia; Myopia; Open mouth; Paroxysmal bursts of laughter; Polyphagia; Postnatal growth retardation; Prominent nose; Protruding ear; Retrognathia; Sandal gap; Seizures; Self-injurious behavior; Short attention span; Short chin; Short foot; Short nose; Short palm; Short stature; Sleep disturbance; Small hand; Stereotypy; Synophrys; Tented upper lip vermilion; Thick eyebrow; Thin upper lip vermilion; Visual impairment; Wide mouth; Widely spaced teeth
MCOLN119p13.2100%gene with protein product605248Abnormality of abdomen morphology; Abnormality of ganglioside metabolism; Abnormality of mucopolysaccharide metabolism; Absent speech; Aplasia/Hypoplasia of the abdominal wall musculature; Ataxia; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral dysmyelination; Corneal opacity; Decreased light- and dark-adapted electroretinogram amplitude; Developmental stagnation; Dysplastic corpus callosum; Dystonia; EEG abnormality; Gait disturbance; Generalized hypotonia; Global developmental delay; Hyperreflexia; Infantile onset; Intellectual disability; Microcephaly; Muscular hypotonia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Photophobia; Progressive retinal degeneration; Retinopathy; Spastic tetraplegia; Strabismus
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
MECR1p35.3100%gene with protein product608205Ataxia; Autosomal recessive inheritance; Chorea; Craniofacial dystonia; Dysarthria; Dyskinesia; Dysphagia; Gait disturbance; Myoclonus; Nystagmus; Optic atrophy; Progressive; Variable expressivity; Visual impairment
MED13L12q24.21100%gene with protein product608771THRAP2Ataxia; Autism; Autosomal dominant inheritance; Brachycephaly; Bulbous nose; Clinodactyly; Coloboma; Cryptorchidism; Depressed nasal bridge; Dysarthria; Everted lower lip vermilion; Frontal bossing; Generalized hypotonia; Global developmental delay; Hypertelorism; Incomplete penetrance; Infantile onset; Intellectual disability, moderate; Low-set ears; Macroglossia; Macrotia; Motor delay; Narrow forehead; Open mouth; Patent foramen ovale; Plagiocephaly; Poor speech; Prominent forehead; Recurrent infections; Round face; Short neck; Strabismus; Transposition of the great arteries; Triangular face; Upslanted palpebral fissure; Wide mouth
MFSD84q28.2100%gene with protein product611124CLN7Ataxia; Autosomal recessive inheritance; Blindness; Cerebellar atrophy; Cerebral atrophy; Delayed speech and language development; EEG abnormality; Generalized myoclonic seizures; Global developmental delay; Juvenile onset; Macular dystrophy; Mental deterioration; Neurodegeneration; Optic atrophy; Pigmentary retinopathy; Rapidly progressive; Reduced visual acuity; Retinopathy; Sleep disturbance; Visual impairment; Visual loss
MKKS20p12.2100%gene with protein product604896BBS6Abnormal electroretinogram; Abnormality of cardiovascular system morphology; Aganglionic megacolon; Anal atresia; Asthma; Ataxia; Autosomal recessive inheritance; Biliary tract abnormality; Brachydactyly; Broad foot; Congenital hip dislocation; Cryptorchidism; Decreased testicular size; Delayed speech and language development; Dental crowding; Diabetes mellitus; Edema; Edema of the lower limbs; External genital hypoplasia; Foot polydactyly; Gait imbalance; Glandular hypospadias; Global developmental delay; Hepatic fibrosis; High, narrow palate; Hirsutism; Hydrometrocolpos; Hydronephrosis; Hydroureter; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hypospadias; Intellectual disability; Left ventricular hypertrophy; Mesoaxial hand polydactyly; Multicystic kidney dysplasia; Nephrogenic diabetes insipidus; Neurological speech impairment; Nystagmus; Obesity; Pigmentary retinopathy; Polycystic kidney dysplasia; Polydactyly; Poor coordination; Postaxial hand polydactyly; Pulmonary hypoplasia; Radial deviation of finger; Rectovaginal fistula; Renal cyst; Retinal degeneration; Rod-cone dystrophy; Short foot; Short stature; Specific learning disability; Strabismus; Syndactyly; Transverse vaginal septum; Urogenital sinus anomaly; Vaginal atresia; Vesicovaginal fistulaBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
MKS117q22100%gene with protein product609883MKSAbnormal cardiac septum morphology; Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of the larynx; Abnormality of the ureter; Abnormality of the uterus; Accessory spleen; Adrenal hypoplasia; Agenesis of corpus callosum; Ambiguous genitalia, female; Ambiguous genitalia, male; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the iris; Apnea; Arnold-Chiari malformation; Asplenia; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Bowing of the long bones; Breech presentation; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral hypoplasia; Cleft palate; Cleft upper lip; Clinodactyly; Coarctation of aorta; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Elevated amniotic fluid alpha-fetoprotein; Encephalocele; Episodic tachypnea; External genital hypoplasia; Feeding difficulties; Feeding difficulties in infancy; Foot polydactyly; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the bladder; Hypoplasia of the ovary; Hypotelorism; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Iris coloboma; Large placenta; Lobar holoprosencephaly; Lobulated tongue; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Natal tooth; Nystagmus; Obesity; Occipital encephalocele; Oculomotor apraxia; Olfactory lobe agenesis; Oligohydramnios; Omphalocele; Optic atrophy; Patent ductus arteriosus; Pigmentary retinopathy; Polycystic kidney dysplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Pulmonary hypoplasia; Radial deviation of finger; Renal agenesis; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Short neck; Short stature; Single umbilical artery; Sloping forehead; Splenomegaly; Syndactyly; Talipes; Webbed neck; Wide mouthBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
MKS117q22100%gene with protein product609883MKSAbnormal cardiac septum morphology; Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of the larynx; Abnormality of the ureter; Abnormality of the uterus; Accessory spleen; Adrenal hypoplasia; Agenesis of corpus callosum; Ambiguous genitalia, female; Ambiguous genitalia, male; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the iris; Apnea; Arnold-Chiari malformation; Asplenia; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Bowing of the long bones; Breech presentation; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral hypoplasia; Cleft palate; Cleft upper lip; Clinodactyly; Coarctation of aorta; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Elevated amniotic fluid alpha-fetoprotein; Encephalocele; Episodic tachypnea; External genital hypoplasia; Feeding difficulties; Feeding difficulties in infancy; Foot polydactyly; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the bladder; Hypoplasia of the ovary; Hypotelorism; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Iris coloboma; Large placenta; Lobar holoprosencephaly; Lobulated tongue; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Natal tooth; Nystagmus; Obesity; Occipital encephalocele; Oculomotor apraxia; Olfactory lobe agenesis; Oligohydramnios; Omphalocele; Optic atrophy; Patent ductus arteriosus; Pigmentary retinopathy; Polycystic kidney dysplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Pulmonary hypoplasia; Radial deviation of finger; Renal agenesis; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Short neck; Short stature; Single umbilical artery; Sloping forehead; Splenomegaly; Syndactyly; Talipes; Webbed neck; Wide mouthBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
MKS117q22100%gene with protein product609883MKSAbnormal cardiac septum morphology; Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of the larynx; Abnormality of the ureter; Abnormality of the uterus; Accessory spleen; Adrenal hypoplasia; Agenesis of corpus callosum; Ambiguous genitalia, female; Ambiguous genitalia, male; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the iris; Apnea; Arnold-Chiari malformation; Asplenia; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Bowing of the long bones; Breech presentation; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral hypoplasia; Cleft palate; Cleft upper lip; Clinodactyly; Coarctation of aorta; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Elevated amniotic fluid alpha-fetoprotein; Encephalocele; Episodic tachypnea; External genital hypoplasia; Feeding difficulties; Feeding difficulties in infancy; Foot polydactyly; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the bladder; Hypoplasia of the ovary; Hypotelorism; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Iris coloboma; Large placenta; Lobar holoprosencephaly; Lobulated tongue; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Natal tooth; Nystagmus; Obesity; Occipital encephalocele; Oculomotor apraxia; Olfactory lobe agenesis; Oligohydramnios; Omphalocele; Optic atrophy; Patent ductus arteriosus; Pigmentary retinopathy; Polycystic kidney dysplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Pulmonary hypoplasia; Radial deviation of finger; Renal agenesis; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Short neck; Short stature; Single umbilical artery; Sloping forehead; Splenomegaly; Syndactyly; Talipes; Webbed neck; Wide mouthBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
MLC122q13.3399.93%gene with protein product605908Ataxia; Autosomal recessive inheritance; Diffuse spongiform leukoencephalopathy; Diffuse swelling of cerebral white matter; Infantile onset; Intellectual disability, mild; Macrocephaly; Megalencephaly; Motor delay; Seizures; Spasticity
MPDU117p13.1100%gene with protein product604041Abnormality of vision; Absent speech; Ataxia; Autosomal recessive inheritance; Cerebral atrophy; Cognitive impairment; Congenital onset; Dry skin; Erythroderma; Failure to thrive; Flexion contracture; Generalized hypotonia; Global developmental delay; Hyperkeratosis; Microcephaly; Muscular hypotonia; Nystagmus; Optic atrophy; Scaling skin; Seizures; Strabismus
MPV172p23.3100%gene with protein product137960Abnormality of the foot; Abnormality of the immune system; Acral ulceration and osteomyelitis leading to autoamputation of digits; Acute hepatic failure; Areflexia; Ataxia; Autosomal recessive inheritance; Cirrhosis; Decreased number of peripheral myelinated nerve fibers; Diarrhea; Distal muscle weakness; Dystonia; Elevated hepatic transaminases; Failure to thrive; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hypoglycemia; Hyporeflexia; Increased susceptibility to fractures; Infantile onset; Lactic acidosis; Macrovesicular hepatic steatosis; Microvesicular hepatic steatosis; Nystagmus; Osteomyelitis leading to amputation due to slow healing fractures; Pain insensitivity; Painless fractures due to injury; Phenotypic variability; Progressive; Prolonged neonatal jaundice; Recurrent corneal erosions; Reye syndrome-like episodes; Sensorimotor neuropathy; Short stature; Vomiting
MTTP4q2399.99%gene with protein product157147MTPAbetalipoproteinemia; Abnormality of movement; Abnormality of retinal pigmentation; Acanthocytosis; Ataxia; Autosomal recessive inheritance; CNS demyelination; Fat malabsorption; Malabsorption; Muscular hypotonia; Peripheral demyelination; Reduced tendon reflexes; Retinal degeneration; Retinopathy
MTTP4q2399.99%gene with protein product157147MTPAbetalipoproteinemia; Abnormality of movement; Abnormality of retinal pigmentation; Acanthocytosis; Ataxia; Autosomal recessive inheritance; CNS demyelination; Fat malabsorption; Malabsorption; Muscular hypotonia; Peripheral demyelination; Reduced tendon reflexes; Retinal degeneration; Retinopathy
MVK12q24.11100%gene with protein product251170Abdominal pain; Aciduria; Agenesis of cerebellar vermis; Aplasia/Hypoplasia of the skin; Arthralgia; Arthritis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Cataract; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Cutaneous photosensitivity; Delayed skeletal maturation; Diarrhea; Dolichocephaly; Downslanted palpebral fissures; Edema; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Episodic fever; Failure to thrive; Fluctuating hepatomegaly; Fluctuating splenomegaly; Gastrointestinal hemorrhage; Generalized hypotonia; Global developmental delay; Headache; Hepatomegaly; Hyperkeratosis; Hypermelanotic macule; Increased IgA level; Intellectual disability; Large fontanelles; Leukocytosis; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Microcephaly; Migraine; Morbilliform rash; Muscular hypotonia; Myalgia; Neutrophilia; Normocytic hypoplastic anemia; Nyctalopia; Nystagmus; Optic disc pallor; Papule; Porokeratosis; Posteriorly rotated ears; Progressive cerebellar ataxia; Pruritus; Recurrent aphthous stomatitis; Seizures; Short stature; Skin rash; Splenomegaly; Thrombocytopenia; Triangular face; Urticaria; Vasculitis; Vertigo; VomitingInflammatory Bowel Disease ; Primary Immunodeficiency
MYO5A15q21.299.98%gene with protein product160777MYH12Abnormality of movement; Accumulation of melanosomes in melanocytes; Ataxia; Autosomal recessive inheritance; Diplopia; Generalized hypotonia; Global developmental delay; Hyperlipidemia; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Infantile onset; Intellectual disability; Iris hypopigmentation; Melanin pigment aggregation in hair shafts; Muscular hypotonia; Myopia; Nystagmus; Partial albinism; Premature graying of hair; Retinopathy; Seizures; Silver-gray hair; Specific learning disability; Tremor; White hairAlbinism ; Palmoplantar keratoderma plus congenital ichthyosis
MYO7A11q13.599.99%gene with protein product276903USH1B, DFNB2, DFNA11Abnormal cochlea morphology; Abnormal electroretinogram; Absent vestibular function; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Cataract; Congenital onset; Global developmental delay; Hemianopia; Heterogeneous; High hypermetropia; Intellectual disability; Iris hypopigmentation; Motor delay; Myopia; Nyctalopia; Rod-cone dystrophy; Schizophrenia; Scotoma; Sensorineural hearing impairment; Undetectable electroretinogram; Vertigo; Vestibular hypofunction; Visual loss
NANS9q22.33100%gene with protein product605202Abnormality of the pinna; Abnormality of the skin; Ataxia; Autosomal recessive inheritance; Brachycephaly; Carpal bone hypoplasia; Coarse facial features; Epicanthus; Flared metaphysis; Flat acetabular roof; Generalized hypotonia; Hirsutism; Intellectual disability, severe; Irregular epiphyses; Irregular vertebral endplates; Long fibula; Low anterior hairline; Low posterior hairline; Metaphyseal irregularity; Microcephaly; Narrow iliac wings; Nystagmus; Platyspondyly; Posterior scalloping of vertebral bodies; Prominent forehead; Short femoral neck; Short neck; Small epiphyses; Spondyloepimetaphyseal dysplasia; Synophrys; Thick lower lip vermilion; Wide nose
NAXE1q2299.95%gene with protein product608862APOA1BPAtaxia; Autosomal recessive inheritance; Brain atrophy; Cerebellar edema; Cerebral edema; Coma; Death in infancy; Developmental regression; Generalized hypotonia; Increased CSF lactate; Increased serum lactate; Lactic acidosis; Leukoencephalopathy; Nystagmus; Rapidly progressive; Seizures; Skin erosion; Strabismus; Tetraparesis; Tremor
NDUFA1Xq24100%gene with protein product300078Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFA102q37.399.89%gene with protein product603835Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFA1119p13.3100%gene with protein product612638Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFA1212q22100%gene with protein product614530Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFA25q31.3100%gene with protein product602137Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFA912p13.3100%gene with protein product603834NDUFS2LAbnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFAF115q15.1100%gene with protein product606934Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF25q12.199.69%gene with protein product609653NDUFA12LAbnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF25q12.199.69%gene with protein product609653NDUFA12LAbnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFAF33p21.31100%gene with protein product612911C3orf60Abnormal mitochondria in muscle tissue; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; Coma; Developmental regression; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Growth delay; Hepatic failure; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Optic disc pallor; Phenotypic variability; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures;