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Phenotypes
Infantile onset

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AASS7q31.3299.99%gene with protein product605113Abnormality of the genitourinary system; Anemia; Autosomal recessive inheritance; Cognitive impairment; Delayed speech and language development; Ectopia lentis; EEG abnormality; Histidinuria; Hyperactivity; Hyperlysinemia; Hyperlysinuria; Infantile onset; Intellectual disability; Intellectual disability, mild; Muscular hypotonia; Phenotypic variability; Seizures; Short attention span; Short stature; Spastic diplegia
ABCB112q31.1100%gene with protein product603201BSEP, PFIC2Autosomal recessive inheritance; Cholelithiasis; Cirrhosis; Conjugated hyperbilirubinemia; Death in childhood; Diarrhea; Elevated alkaline phosphatase; Failure to thrive; Fat malabsorption; Hepatocellular carcinoma; Hepatomegaly; Infantile onset; Intermittent jaundice; Intrahepatic cholestasis; Jaundice; Pruritus; Short stature; Splenomegaly
ABCB47q21.12100%gene with protein product171060PGY3, MDR3Abnormal liver function tests during pregnancy; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Cholangitis; Cholecystitis; Cholelithiasis; Cholesterol gallstones; Cirrhosis; Diarrhea; Elevated alkaline phosphatase; Elevated hepatic transaminases; Fetal distress; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Increased serum bile acid concentration during pregnancy; Infantile onset; Intrahepatic cholestasis; Jaundice; Malabsorption; Pancreatitis; Portal fibrosis; Premature birth; Pruritus; Splenomegaly
ABCD31p21.3100%gene with protein product170995PXMP1Autosomal recessive inheritance; Elevated hepatic transaminases; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Infantile onset; Iron deficiency anemia; Jaundice; Progressive; Splenomegaly
ACADSB10q26.13100%gene with protein product600301Apneic episodes in infancy; Autosomal recessive inheritance; Exotropia; Generalized amyotrophy; Generalized hypotonia; Global developmental delay; Hypoglycemia; Hypothermia; Infantile onset; Lethargy; Microcephaly; Motor delay; Seizures
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
ACOX117q25.1100%gene with protein product609751Abnormal electroretinogram; Abnormality of metabolism/homeostasis; Abnormality of nervous system morphology; Abnormality of visual evoked potentials; Autosomal recessive inheritance; Babinski sign; Bilateral sensorineural hearing impairment; Brachycephaly; CNS demyelination; Death in infancy; Decreased light- and dark-adapted electroretinogram amplitude; Depressed nasal bridge; Developmental regression; Diffuse hepatic steatosis; Dysphagia; Dystonia; EEG abnormality; Elevated hepatic transaminases; Epicanthus; Failure to thrive; Frontal bossing; Gait disturbance; Global developmental delay; Hepatomegaly; Hyperreflexia; Hypertelorism; Hypertonia; Hypodontia; Infantile onset; Intellectual disability, progressive; Intellectual disability, severe; Inverted nipples; Irritability; Leukodystrophy; Low-set ears; Muscular hypotonia; Myopia; Neonatal hypotonia; Neurological speech impairment; No social interaction; Nystagmus; Optic atrophy; Pigmentary retinopathy; Respiratory insufficiency; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Strabismus; Tapetoretinal degeneration; Wide nasal bridge
ACOX23p14.3100%gene with protein product601641Autosomal recessive inheritance; Delayed speech and language development; Dysmetria; Global developmental delay; Hypolipidemia; Infantile onset; Intellectual disability, mild; Slurred speech; Steatorrhea; Vertical supranuclear gaze palsy; Vitamin D deficiency
ADAR1q21.3100%gene with protein product146920IFI4, G1P1Arrhinencephaly; Autosomal dominant inheritance; Autosomal recessive inheritance; Dystonia; Eyelid coloboma; Global developmental delay; Hemiplegia/hemiparesis; Hyperpigmented/hypopigmented macules; Infantile onset; Intellectual disability, profound; Loss of ability to walk; Loss of speech; Macular hyperpigmentation; Macular hypopigmentation; Macule; Porencephalic cyst; Rigidity; Spasticity; Torsion dystonia; TremorAutoimmune Disorders
ADAT319p13.3100%gene with protein product615302Autosomal recessive inheritance; Esotropia; Failure to thrive; Generalized hypotonia; Infantile onset; Intellectual disability; Microcephaly
ADD310q25.1-q25.100%gene with protein product601568ADDLAbnormal pyramidal signs; Autosomal recessive inheritance; Cognitive impairment; Dysphagia; Exotropia; Global developmental delay; Infantile onset; Microcephaly; Nystagmus; Poor speech; Spastic diplegia; Spastic tetraplegia; Supranuclear gaze palsy; Variable expressivity
ADGRV15q14.399.74%gene with protein productFormer name = GPR98602851USH2C, MASS1, GPR98Abnormal electroretinogram; Atonic seizures; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Childhood onset; Congenital sensorineural hearing impairment; Febrile seizures; Generalized tonic seizures; Generalized tonic-clonic seizures; Hemianopia; Heterogeneous; Infantile onset; Iris hypopigmentation; Myopia; Nyctalopia; Rod-cone dystrophy; Scotoma; Sensorineural hearing impairment; Visual loss
ADK10q22.2100%gene with protein product102750Autosomal recessive inheritance; Cerebral atrophy; Cholestasis; Decreased liver function; Delayed speech and language development; Elevated hepatic transaminases; Failure to thrive; Frontal bossing; Generalized hypotonia; Global developmental delay; Hepatic steatosis; Hyperbilirubinemia; Hypermethioninemia; Hypertelorism; Infantile onset; Macrocephaly; Narrow foot; Poor speech; Portal fibrosis; Progressive; Seizures; Skeletal muscle atrophy
ADNP20q13.13100%gene with protein product611386Autistic behavior; Autosomal dominant inheritance; Downslanted palpebral fissures; Eyelid coloboma; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypermetropia; Infantile onset; Intellectual disability; Joint laxity; Language impairment; Obesity; Obsessive-compulsive behavior; Prominent forehead; Ptosis; Recurrent infections; Short nose; Short stature; Small hand; Smooth philtrum; Stereotypy; Strabismus; Thin upper lip vermilion; Visual impairment; Wide nasal bridge
ADSL22q13.1100%gene with protein product608222Abnormal facial shape; Absent speech; Aggressive behavior; Anteverted nares; Autism; Autosomal recessive inheritance; Brachycephaly; Brisk reflexes; Cerebellar atrophy; Cerebral atrophy; Cerebral hypomyelination; CNS hypomyelination; Delayed speech and language development; Flat occiput; Gait ataxia; Generalized hypotonia; Global developmental delay; Growth delay; Hyperactivity; Hypointensity of cerebral white matter on MRI; Inability to walk; Inappropriate laughter; Infantile onset; Intellectual disability; Long philtrum; Low-set ears; Microcephaly; Myoclonus; Nystagmus; Opisthotonus; Poor eye contact; Prominent metopic ridge; Seizures; Self-mutilation; Severe global developmental delay; Short nose; Skeletal muscle atrophy; Smooth philtrum; Strabismus; Thin upper lip vermilion; Wide mouth
AFG3L218p11.2199.9%gene with protein product604581SCA28Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmetric saccades; Dysphagia; Dystonia; Gait ataxia; Gaze-evoked nystagmus; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Increased intramyocellular lipid droplets; Infantile onset; Limb ataxia; Lower limb hyperreflexia; Muscle weakness; Myoclonus; Oculomotor apraxia; Ophthalmoparesis; Progressive; Ptosis; Sensorimotor neuropathy; Skeletal muscle atrophy; Slow progression; Slow saccadic eye movements; Spastic ataxia; Spastic paraparesis; Spasticity; Variable expressivity
AGK7q3499.95%gene with protein product610345MULK3-Methylglutaconic aciduria; Autosomal recessive inheritance; Cataract; Congenital cataract; Easy fatigability; Exercise intolerance; Exercise-induced lactic acidemia; Fatigue; Generalized hypotonia; Glaucoma; Growth delay; Hypertrophic cardiomyopathy; Increased serum lactate; Infantile onset; Lactic acidosis; Mitochondrial myopathy; Motor delay; Muscle weakness; Myopathy; Myopia; Nystagmus; Respiratory insufficiency; Strabismus; Variable expressivity
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
ALG1113q14.3100%gene with protein product613666Absent speech; Autosomal recessive inheritance; Feeding difficulties; Global developmental delay; Infantile onset; Neonatal hypotonia; Opisthotonus; Seizures; Strabismus; Temperature instability; Type I transferrin isoform profile; Vomiting
ALG13Xq2399.95%gene with protein product300776GLT28D1, CXorf45Abnormality of extrapyramidal motor function; Anteverted nares; Cerebral atrophy; Delayed myelination; Generalized hypotonia; Global developmental delay; Hepatomegaly; Horizontal nystagmus; Hypertelorism; Hypsarrhythmia; Infantile onset; Infantile spasms; Intellectual disability; Intellectual disability, severe; Long philtrum; Low-set ears; Microcephaly; Optic atrophy; Poor eye contact; Recurrent infections; Seizures; Type I transferrin isoform profile; X-linked dominant inheritance; X-linked recessive inheritance
ALS22q33.1100%gene with protein product606352ALS2CR6Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of eye movement; Abnormality of the corticospinal tract; Abnormality of the eye; Abnormality of the face; Achilles tendon contracture; Amyotrophic lateral sclerosis; Anarthria; Autosomal recessive inheritance; Babinski sign; Cerebral cortical atrophy; Chewing difficulties; Childhood onset; Decreased muscle mass; Difficulty in tongue movements; Distal amyotrophy; Drooling; Dysarthria; Dysphagia; EMG abnormality; EMG: chronic denervation signs; Gait disturbance; Gait imbalance; Hand muscle atrophy; Hyperreflexia; Infantile onset; Juvenile onset; Loss of speech; Lower limb spasticity; Motor delay; Muscle weakness; Pes cavus; Progressive; Pseudobulbar behavioral symptoms; Saccadic smooth pursuit; Scoliosis; Slow progression; Slow saccadic eye movements; Spastic dysarthria; Spastic gait; Spastic paraplegia; Spastic tetraparesis; Spastic tetraplegia; Spasticity; Spasticity of facial muscles; Spasticity of pharyngeal muscles; Tetraplegia; Upper limb spasticity; Urinary incontinence
AP3D119p13.398.52%gene with protein product607246Aplasia/Hypoplasia of the macula; Astigmatism; Autosomal recessive inheritance; Cerebral atrophy; Delayed myelination; Dystonia; EEG abnormality; Feeding difficulties; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Hepatomegaly; Hypotelorism; Immunodeficiency; Infantile onset; Interstitial pulmonary abnormality; Low-set ears; Macrotia; Microcephaly; Miosis; Muscular hypotonia of the trunk; Neutropenia; Nystagmus; Ocular albinism; Photophobia; Recurrent respiratory infections; Retrognathia; Smooth philtrum; Splenomegaly; Strabismus; Visual impairmentAlbinism
ARFGEF220q13.13100%gene with protein product605371Autosomal recessive inheritance; Generalized hypotonia; Global developmental delay; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile onset; Intellectual disability; Intellectual disability, severe; Microcephaly; Periventricular gray matter heterotopia; Poor eye contact; Progressive microcephaly; Seizures; Tetraparesis
ARV11q42.2100%gene with protein product611647Ataxia; Autosomal recessive inheritance; Dystonia; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Infantile onset; Intellectual disability, profound; Status epilepticus
ASXL22p23.399.89%gene with protein product612991Atrial septal defect; Autosomal dominant inheritance; Broad nasal tip; Deep palmar crease; Delayed speech and language development; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Highly arched eyebrow; Hypertelorism; Infantile onset; Intellectual disability; Kyphosis; Long face; Low-set ears; Macrocephaly; Phenotypic variability; Posteriorly rotated ears; Proptosis; Ptosis; Retrognathia; Scoliosis; Ventriculomegaly
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
ATP6AP2Xp11.499.92%gene with protein product300556ATP6IP2Action tremor; Agraphesthesia; Astereognosia; Autosomal recessive inheritance; Babinski sign; Bradykinesia; Cerebellar atrophy; Cerebral atrophy; Cogwheel rigidity; Delayed speech and language development; Gait disturbance; Generalized tonic-clonic seizures; Hypomimic face; Hypoplasia of the corpus callosum; Hyporeflexia; Infantile onset; Intellectual disability; Motor delay; Parkinsonism; Resting tremor; Slow progression; Variable expressivity; X-linked recessive inheritance
ATP8B118q21.31100%gene with protein product602397FIC1, BRIC, PFIC1Abnormal liver function tests during pregnancy; Autosomal dominant inheritance; Autosomal recessive inheritance; Cirrhosis; Conjugated hyperbilirubinemia; Diarrhea; Failure to thrive; Fat malabsorption; Fetal distress; Hearing impairment; Hepatomegaly; Increased serum bile acid concentration; Increased serum bile acid concentration during pregnancy; Infantile onset; Intermittent jaundice; Intrahepatic cholestasis; Intrahepatic cholestasis with episodic jaundice; Jaundice; Pancreatitis; Premature birth; Pruritus; Severe short stature; Splenomegaly
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
BCL101p22.3100%gene with protein product603517Anemia; Autosomal recessive inheritance; B-cell lymphoma; Constipation; Decreased antibody level in blood; Encephalitis; Fatigue; Fever; Gastric lymphoma; Hyperhidrosis; Immunodeficiency; Infantile onset; Nausea and vomiting; Pulmonary infiltrates; Recurrent infections; Seizures; Weight loss
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
BLNK10q24.1100%gene with protein product604515Agammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Neutropenia; Osteomyelitis; Recurrent bacterial infections; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
BOLA32p13.1100%gene with protein product613183Abnormality of extrapyramidal motor function; Autosomal recessive inheritance; Death in infancy; Decreased activity of mitochondrial respiratory chain; Dilated cardiomyopathy; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hypertrophic cardiomyopathy; Infantile onset; Lactic acidosis; Lethargy; Leukodystrophy; Poor head control; Respiratory failure; Seizures; Spasticity; Vomiting
BRF114q32.33100%gene with protein product604902TAF3B2, TAF3C, GTF3BAutosomal recessive inheritance; Cerebellar hypoplasia; Dental malocclusion; Fine hair; Global developmental delay; Infantile onset; Intellectual disability; Low-set ears; Macrodontia of permanent maxillary central incisor; Microcephaly; Scoliosis; Short neck; Short stature; Slender long bone; Sparse and thin eyebrow; Sparse hair; Tapered finger; Taurodontia
C12ORF5712p13.31100%gene with protein product615140Agenesis of corpus callosum; Aortic aneurysm; Aortic regurgitation; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Brachydactyly; Chorioretinal coloboma; Coarse facial features; Convex nasal ridge; Dental crowding; Dolichocephaly; Downslanted palpebral fissures; Ectopia lentis; Frontal bossing; Generalized hypotonia; Genu varum; Global developmental delay; Highly arched eyebrow; Hip dislocation; Hypertelorism; Hypoplasia of teeth; Infantile onset; Intellectual disability; Intellectual disability, mild; Iris coloboma; Long face; Long philtrum; Lop ear; Low-set ears; Macrocephaly; Micrognathia; Myopia; Pes planus; Short 2nd toe; Short toe; Talipes equinovarus; Ventriculomegaly
CA1215q22.2100%gene with protein product603263Autosomal dominant inheritance; Autosomal recessive inheritance; Dehydration; Failure to thrive; Feeding difficulties; Hyperkalemia; Hyponatremia; Infantile onsetPalmoplantar keratoderma plus congenital ichthyosis
CAD2p23.3100%gene with protein product114010Acanthocytosis; Anemia; Anisopoikilocytosis; Autosomal recessive inheritance; Broad-based gait; Developmental regression; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Hyperammonemia; Infantile onset; Poor speech; Progressive; Renal tubular acidosis; Schistocytosis; Status epilepticusEctodermal Dysplasia ; Rhabdomyolysis
CARD117p22.2100%gene with protein product607210Autosomal dominant inheritance; Autosomal recessive inheritance; Decreased antibody level in blood; Hepatomegaly; IgM deficiency; Immunodeficiency; Infantile onset; Pneumonia; Recurrent infections; Recurrent respiratory infections; SplenomegalyAutoimmune Disorders ; Bone Marrow Failure Syndromes
CAVIN117q21.31100%gene with protein productformer name = PTRF603198PTRFAbnormal levels of creatine kinase in blood; Acanthosis nigricans; Atherosclerosis; Atrial fibrillation; Autosomal recessive inheritance; Bradycardia; Constipation; Delayed skeletal maturation; Diabetes mellitus; Dysphagia; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Exercise-induced myalgia; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized muscle hypertrophy; Generalized muscle weakness; Hepatic steatosis; Hepatomegaly; Hyperinsulinemia; Hyperlordosis; Hypertriglyceridemia; IgA deficiency; Ileus; Infantile onset; Insulin resistance; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Muscle mounding; Muscle stiffness; Muscular dystrophy; Myalgia; Myopathy; Osteopenia; Osteoporosis; Palpitations; Progressive proximal muscle weakness; Prolonged QT interval; Prolonged QTc interval; Prominent umbilicus; Proximal muscle weakness; Pyloric stenosis; Recurrent infections; Scoliosis; Secondary amenorrhea; Skeletal muscle hypertrophy; Spinal rigidity; Splenomegaly; Tachycardia; Thin skin
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
CCDC1152q21.199.82%gene with protein product613734Autosomal recessive inheritance; Cholestatic liver disease; Cirrhosis; Copper accumulation in liver; Hepatomegaly; Infantile onset; Prolonged neonatal jaundice; Skeletal muscle atrophy; Splenomegaly
CCT55p15.2100%gene with protein product610150Abnormality of peripheral nerve conduction; Abnormality of the foot; Acral ulceration and osteomyelitis leading to autoamputation of digits; Atrophy of the spinal cord; Autosomal recessive inheritance; Babinski sign; Clonus; Decreased circulating low-density lipoprotein levels; Decreased motor nerve conduction velocity; Distal amyotrophy; Distal sensory impairment; Distal sensory loss of all modalities; Dysautonomia; Gait disturbance; Hyperreflexia; Hypocholesterolemia; Impaired pain sensation; Infantile onset; Juvenile onset; Peripheral axonal neuropathy; Skin ulcer; Spastic gait; Spastic paraplegia
CD2471q24.2100%gene with protein product186780CD3ZAntinuclear antibody positivity; Apraxia; Arthralgia; Autosomal recessive inheritance; Decrease in T cell count; Dental malocclusion; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Eosinophilia; Immunodeficiency; Infantile onset; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Polyarticular arthritis; Protracted diarrhea; Susceptibility to herpesvirusPrimary Immunodeficiency
CD3D11q23.3100%gene with protein product186790T3DAutosomal recessive inheritance; Diarrhea; Failure to thrive; Immunodeficiency; Infantile onset; Lymphopenia; Recurrent otitis media; Recurrent respiratory infectionsPrimary Immunodeficiency
CD3E11q23.3100%gene with protein product186830Autosomal recessive inheritance; Decreased proportion of CD3-positive T cells; Immunodeficiency; Infantile onset; Recurrent otitis media; Recurrent respiratory infections; Variable expressivityPrimary Immunodeficiency
CD5911p13100%gene with protein product107271MIC11, MIN1, MSK21, MIN2, MIN3Areflexia; Autosomal recessive inheritance; Generalized hypotonia; Hemolytic anemia; Increased CSF protein; Infantile onset; Limb muscle weakness; Paroxysmal nocturnal hemoglobinuria; Skeletal muscle atrophyHemolytic Anemia
CD79B17q23.3100%gene with protein product147245IGBAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Osteomyelitis; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders ; Common Variable Immune Deficiency
CDKL5Xp22.1396.91%gene with protein product300203STK9Abnormality of movement; Abnormality of skin morphology; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Broad forehead; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Developmental regression; EEG abnormality; Epileptic encephalopathy; Fine hair; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hearing impairment; Hyperventilation; Hypsarrhythmia; Inability to walk; Infantile onset; Infantile spasms; Intellectual disability; Intellectual disability, profound; Long philtrum; Microcephaly; Multifocal seizures; Myoclonus; Nephrolithiasis; Poor eye contact; Progressive microcephaly; Prominent forehead; Scoliosis; Seizures; Short foot; Short palm; Small hand; Spasticity; Stereotypy; Tapered finger; Thick lower lip vermilion; Thick vermilion border; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance
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
CHRNA12q31.1100%gene with protein product100690CHRNAAbnormal cervical curvature; Abnormal facial shape; Akinesia; Amyoplasia; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Cleft palate; Cystic hygroma; Decreased miniature endplate potentials; Decreased size of nerve terminals; Depressed nasal ridge; Dysarthria; Dysphagia; Easy fatigability; Edema; Epicanthus; Facial palsy; Fatigable weakness; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Generalized muscle weakness; Gowers sign; High palate; Hypertelorism; Hypoplastic heart; Increased susceptibility to fractures; Infantile onset; Intermittent episodes of respiratory insufficiency due to muscle weakness; Intrauterine growth retardation; Joint dislocation; Low-set ears; Macrotia; Malignant hyperthermia; Micrognathia; Motor delay; Multiple pterygia; Neck muscle weakness; Neonatal hypotonia; Onset; Ophthalmoparesis; Ophthalmoplegia; Polyhydramnios; Poor suck; Prolonged miniature endplate currents; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency due to muscle weakness; Scoliosis; Short finger; Thin ribs; Type 2 muscle fiber atrophy; Variable expressivity; Vertebral fusion; Weak cry
CHRND2q37.1100%gene with protein product100720ACHRDAbnormal cervical curvature; Abnormal facial shape; Akinesia; Amyoplasia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cleft palate; Congenital onset; Cystic hygroma; Depressed nasal ridge; Dysphagia; Easy fatigability; Edema; Epicanthus; Facial palsy; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Generalized hypotonia; Generalized muscle weakness; High palate; Hypertelorism; Hypoplastic heart; Inability to walk; Increased susceptibility to fractures; Infantile onset; Intrauterine growth retardation; Joint dislocation; Low-set ears; Malignant hyperthermia; Micrognathia; Multiple pterygia; Muscular hypotonia; Neck muscle weakness; Neonatal hypotonia; Ophthalmoplegia; Polyhydramnios; Progressive; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Short finger; Thin ribs; Vertebral fusion
CHRND2q37.1100%gene with protein product100720ACHRDAbnormal cervical curvature; Abnormal facial shape; Akinesia; Amyoplasia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cleft palate; Congenital onset; Cystic hygroma; Depressed nasal ridge; Dysphagia; Easy fatigability; Edema; Epicanthus; Facial palsy; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Generalized hypotonia; Generalized muscle weakness; High palate; Hypertelorism; Hypoplastic heart; Inability to walk; Increased susceptibility to fractures; Infantile onset; Intrauterine growth retardation; Joint dislocation; Low-set ears; Malignant hyperthermia; Micrognathia; Multiple pterygia; Muscular hypotonia; Neck muscle weakness; Neonatal hypotonia; Ophthalmoplegia; Polyhydramnios; Progressive; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Short finger; Thin ribs; Vertebral fusion
CHRNE17p13.2100%gene with protein product100725Abnormality of the immune system; Apneic episodes precipitated by illness, fatigue, stress; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Congenital onset; Decreased fetal movement; Decreased miniature endplate potentials; Decreased muscle mass; Decreased size of nerve terminals; Dental malocclusion; Dysarthria; Dysphagia; Easy fatigability; EMG: decremental response of compound muscle action potential to repetitive nerve stimulation; Facial palsy; Fatigable weakness; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Generalized hypotonia due to defect at the neuromuscular junction; Gowers sign; High palate; Infantile onset; Limb muscle weakness; Long face; Mandibular prognathia; Motor delay; Muscle cramps; Muscular hypotonia; Neck muscle weakness; Neonatal hypotonia; Nonprogressive; Ophthalmoparesis; Ophthalmoplegia; Poor suck; Ptosis; Respiratory distress; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Strabismus; Sudden episodic apnea; Type 2 muscle fiber atrophy; Variable expressivity; Weak cry
CHRNE17p13.2100%gene with protein product100725Abnormality of the immune system; Apneic episodes precipitated by illness, fatigue, stress; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Congenital onset; Decreased fetal movement; Decreased miniature endplate potentials; Decreased muscle mass; Decreased size of nerve terminals; Dental malocclusion; Dysarthria; Dysphagia; Easy fatigability; EMG: decremental response of compound muscle action potential to repetitive nerve stimulation; Facial palsy; Fatigable weakness; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Generalized hypotonia due to defect at the neuromuscular junction; Gowers sign; High palate; Infantile onset; Limb muscle weakness; Long face; Mandibular prognathia; Motor delay; Muscle cramps; Muscular hypotonia; Neck muscle weakness; Neonatal hypotonia; Nonprogressive; Ophthalmoparesis; Ophthalmoplegia; Poor suck; Ptosis; Respiratory distress; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Strabismus; Sudden episodic apnea; Type 2 muscle fiber atrophy; Variable expressivity; Weak cry
CLIC56p21.1100%gene with protein product607293Autosomal recessive inheritance; Infantile onset; Sensorineural hearing impairment; Vestibular areflexia
COG21q42.299.94%gene with protein product606974LDLCAutosomal recessive inheritance; Decreased liver function; Decreased serum ceruloplasmin; Diffuse cerebral atrophy; Elevated hepatic transaminases; Generalized tonic seizures; Global developmental delay; Hepatosplenomegaly; Hypocupremia; Hypoplasia of the corpus callosum; Infantile onset; Postnatal microcephaly; Seizures; Small pituitary gland; Spastic tetraplegia
COL6A121q22.3100%gene with protein product120220Abnormality of the cardiovascular system; Abnormality of the palate; Adducted thumb; Ankle contracture; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Congenital muscular torticollis; Decreased fetal movement; Diaphragmatic weakness; Distal muscle weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Follicular hyperkeratosis; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Hyperhidrosis; Increased endomysial connective tissue; Increased laxity of ankles; Increased laxity of fingers; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Joint stiffness; Knee flexion contracture; Kyphosis; Limb-girdle muscle weakness; Long toe; Micrognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Myopathy; Neonatal hypotonia; Nocturnal hypoventilation; Pes valgus; Progressive; Protruding ear; Proximal muscle weakness; Recurrent lower respiratory tract infections; Respiratory failure; Respiratory insufficiency due to muscle weakness; Round face; Scoliosis; Short neck; Skeletal muscle atrophy; Slender build; Slender finger; Slow progression; Spinal rigidity; Talipes equinovarus; Torticollis; Type 1 muscle fiber predominance; Variable expressivity
COL6A221q22.3100%gene with protein product120240Abnormality of the cardiovascular system; Abnormality of the palate; Achilles tendon contracture; Adducted thumb; Ankle contracture; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Congenital muscular torticollis; Decreased fetal movement; Decreased pulmonary function; Diaphragmatic weakness; Distal muscle weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Follicular hyperkeratosis; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Hyperhidrosis; Increased connective tissue; Increased endomysial connective tissue; Increased laxity of ankles; Increased laxity of fingers; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Joint stiffness; Juvenile onset; Knee flexion contracture; Kyphosis; Limb-girdle muscle weakness; Long toe; Lumbar hyperlordosis; Micrognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Myopathy; Neonatal hypotonia; Nocturnal hypoventilation; Pes valgus; Progressive; Protruding ear; Proximal muscle weakness; Recurrent lower respiratory tract infections; Respiratory failure; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Round face; Scoliosis; Short neck; Short stature; Skeletal muscle atrophy; Slender build; Slender finger; Slow progression; Spinal rigidity; Talipes equinovarus; Thoracolumbar scoliosis; Torticollis; Type 1 muscle fiber predominance; Variable expressivity
COL6A32q37.3100%gene with protein product120250Abnormality of the cardiovascular system; Abnormality of the palate; Adducted thumb; Ankle contracture; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Congenital muscular torticollis; Decreased fetal movement; Diaphragmatic weakness; Distal muscle weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Follicular hyperkeratosis; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Hyperhidrosis; Increased endomysial connective tissue; Increased laxity of ankles; Increased laxity of fingers; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Joint stiffness; Knee flexion contracture; Kyphosis; Laryngeal dystonia; Limb-girdle muscle weakness; Long toe; Micrognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Myopathy; Neonatal hypotonia; Nocturnal hypoventilation; Oromandibular dystonia; Pes valgus; Postural tremor; Progressive; Protruding ear; Proximal muscle weakness; Recurrent lower respiratory tract infections; Respiratory failure; Respiratory insufficiency due to muscle weakness; Round face; Scoliosis; Short neck; Skeletal muscle atrophy; Slender build; Slender finger; Slow progression; Spinal rigidity; Talipes equinovarus; Torticollis; Type 1 muscle fiber predominance; Variable expressivity
COLQ3p25.1100%gene with protein product603033Abnormality of the immune system; Autosomal recessive inheritance; Decreased muscle mass; Decreased size of nerve terminals; Dysarthria; Dysphagia; Easy fatigability; EMG: decremental response of compound muscle action potential to repetitive nerve stimulation; Fatigable weakness; Feeding difficulties in infancy; Generalized hypotonia; Generalized muscle weakness; Hyperlordosis; Infantile onset; Limb muscle weakness; Ophthalmoparesis; Prolonged miniature endplate currents; Ptosis; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Scoliosis; Type 2 muscle fiber atrophy; Weak cry
COQ614q24.3100%gene with protein product614647Autosomal recessive inheritance; Focal segmental glomerulosclerosis; Infantile onset; Nephrotic syndrome; Proteinuria; Rapidly progressive; Sensorineural hearing impairmentNephrotic Syndrome
CORO1A16p11.292.41%gene with protein product605000Autosomal recessive inheritance; Global developmental delay; Hyperactivity; Immunodeficiency; Infantile onset; Lymphopenia; Recurrent respiratory infections
COX1017p12100%gene with protein product602125Abnormal pattern of respiration; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; CNS demyelination; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Glycosuria; Hepatocellular necrosis; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory failure; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
COX1510q24.294.3%gene with protein product603646Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Decreased fetal movement; Dysarthria; Dystonia; Emotional lability; Encephalopathy; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatic steatosis; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Microcephaly; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
COX4I220q11.21100%gene with protein product607976COX4L2Allergic rhinitis; Anemia of inadequate production; Asthma; Autosomal recessive inheritance; Calvarial hyperostosis; Carious teeth; Delayed skeletal maturation; Exocrine pancreatic insufficiency; Failure to thrive; Global developmental delay; Hepatomegaly; Infantile onset; Jaundice; Malnutrition; Osteopenia; Skin rash; Splenomegaly; Steatorrhea
CPT21p32.3100%gene with protein product600650CPT1Abnormality of nervous system morphology; Abnormality of the foot; Agenesis of corpus callosum; Antenatal intracerebral hemorrhage; Apnea; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia cysts; Bulbous nose; Cardiomegaly; Cardiomyopathy; Cataract; Coma; Decreased plasma free carnitine; Decreased plasma total carnitine; Dilated cardiomyopathy; Elbow flexion contracture; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Elevated serum long-chain fatty acids; Enlarged kidney; Fatigue; Feeding difficulties in infancy; Hepatic calcification; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperammonemia; Hypoketotic hypoglycemia; Hypoplastic toenails; Increased muscle lipid content; Increased total bilirubin; Infantile onset; Intracerebral periventricular calcifications; Knee flexion contracture; Lethargy; Long toe; Long-chain dicarboxylic aciduria; Low-set ears; Macrovesicular hepatic steatosis; Microcephaly; Multicystic kidney dysplasia; Muscle cramps; Muscle stiffness; Muscle weakness; Muscular hypotonia; Myalgia; Myoglobinuria; Myopathy; Narrow palate; Nausea and vomiting; Neonatal hypotonia; Nonketotic hypoglycemia; Overfolded helix; Polycystic kidney dysplasia; Polymicrogyria; Posteriorly rotated ears; Prominent forehead; Renal insufficiency; Respiratory arrest; Respiratory distress; Respiratory failure; Respiratory insufficiency; Rhabdomyolysis; Seizures; Sloping forehead; Tapered finger; Tapered toe; Ureteral duplication; Ventriculomegaly; Vomiting; Wide intermamillary distanceRhabdomyolysis
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
CTNNB13p22.1100%gene with protein product116806CTNNBAbdominal pain; Abnormal hypothalamus morphology; Abnormal visual field test; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the abdominal wall; Abnormality of the musculature; Autosomal dominant inheritance; Autosomal recessive inheritance; Bitemporal hemianopia; Breast carcinoma; Central adrenal insufficiency; Central diabetes insipidus; Cerebral calcification; Desmoid tumors; Dysgerminoma; Elevated alpha-fetoprotein; Enlarged pituitary gland; Epigastric pain; Excessive daytime somnolence; Fatigue; Generalized hypotonia; Global developmental delay; Headache; Hepatic fibrosis; Hepatic necrosis; Hepatocellular carcinoma; Hepatomegaly; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Incomplete penetrance; Infantile onset; Intellectual disability; Intestinal polyposis; Intracranial cystic lesion; Long philtrum; Malabsorption; Medulloblastoma; Microcephaly; Micronodular cirrhosis; Myalgia; Nausea and vomiting; Neoplasm of the anterior pituitary; Neoplasm of the stomach; Neurological speech impairment; Obesity; Ovarian papillary adenocarcinoma; Papilledema; Pilomatrixoma; Pituitary hypothyroidism; Portal vein thrombosis; Progressive visual field defects; Prolactin excess; Renal cell carcinoma; Slow decrease in visual acuity; Somatic mutation; Spastic diplegia; Strabismus; Subacute progressive viral hepatitis; Subcutaneous nodule; Thin upper lip vermilion; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Vomiting
CWF19L110q24.3199.95%gene with protein product616120Autosomal recessive inheritance; Dysarthria; Dysmetria; Generalized hypotonia; Global developmental delay; Infantile onset; Intellectual disability; Nonprogressive; Slow progression; Tremor; Truncal ataxia; Unsteady gait
CXCR42q22.1100%gene with protein product162643Abnormality of female external genitalia; Abnormality of female internal genitalia; Autosomal dominant inheritance; Bone marrow hypercellularity; Bronchiectasis; Decreased antibody level in blood; IgG deficiency; Infantile onset; Myelokathexis; Neutropenia; Recurrent bacterial infections; Recurrent upper respiratory tract infections; VerrucaeAplastic Anemia ; Bone Marrow Failure Syndromes
CYB5A18q22.3100%gene with protein product613218CYB5Abnormality of creatine metabolism; Abnormality of metabolism/homeostasis; Absence of secondary sex characteristics; Autosomal recessive inheritance; Cryptorchidism; Cyanosis; Decreased fertility in females; Decreased fertility in males; Decreased serum estradiol; Decreased serum testosterone level; Decreased testicular size; Delayed puberty; Delayed skeletal maturation; Dysmenorrhea; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Enlarged polycystic ovaries; Hypergonadotropic hypogonadism; Hypoplasia of the uterus; Hypoplasia of the vagina; Hypospadias; Infantile onset; Male pseudohermaphroditism; Methemoglobinemia; Micropenis; Osteoporosis; Primary amenorrhea; Primary gonadal insufficiency; Short stature; Sparse axillary hair; Sparse body hair; Sparse pubic hairDisorders of Sex Development
CYP2R111p15.2100%gene with protein product608713Autosomal recessive inheritance; Bone pain; Bowing of the legs; Bulging epiphyses; Bulging of the costochondral junction; Deformed rib cage; Delayed epiphyseal ossification; Difficulty standing; Difficulty walking; Elevated alkaline phosphatase; Enlargement of the ankles; Enlargement of the costochondral junction; Enlargement of the wrists; Failure to thrive; Femoral bowing; Fibular bowing; Flat occiput; Frontal bossing; Generalized hypotonia; Growth delay; Hypophosphatemia; Infantile onset; Metaphyseal irregularity; Muscle weakness; Recurrent fractures; Rickets; Sparse bone trabeculae; Thin bony cortex; Tibial bowing; Widely patent fontanelles and sutures
DAG13p21.31100%gene with protein product128239Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Absent speech; Agenesis of corpus callosum; Ankle contracture; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral calcification; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Elevated serum creatine phosphokinase; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Hydrocephalus; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hyporeflexia; Infantile onset; Intellectual disability; Leukodystrophy; Limb-girdle muscle weakness; Lissencephaly; Lumbar hyperlordosis; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopia; Optic atrophy; Pachygyria; Polymicrogyria; Poor head control; Respiratory failure; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Skeletal muscle atrophy; Specific learning disability; Variable expressivity; VentriculomegalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
DARS2q21.391.83%gene with protein product603084Autosomal recessive inheritance; Babinski sign; CNS hypomyelination; Hyperreflexia; Hypoplasia of the corpus callosum; Infantile onset; Leukoencephalopathy; Motor delay; Muscular hypotonia of the trunk; Nystagmus; Progressive; Spasticity
DCDC26p22.3100%gene with protein product605755DFNB66Autosomal recessive inheritance; Bile duct proliferation; Biliary cirrhosis; Cholestasis; Cirrhosis; Elevated hepatic transaminases; Hepatic fibrosis; Hepatomegaly; Infantile onset; Jaundice; Nephronophthisis; Portal hypertension; Progressive; Pruritus; Sclerosing cholangitis; Sensorineural hearing impairment; Splenomegaly; Stage 5 chronic kidney disease
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
DDC7p12.2-p12.199.99%gene with protein product107930Autosomal recessive inheritance; Babinski sign; Choreoathetosis; Constipation; Decreased CSF homovanillic acid; Diarrhea; Emotional lability; Feeding difficulties in infancy; Gastroesophageal reflux; Global developmental delay; Hyperhidrosis; Hyperreflexia; Hypotension; Infantile onset; Intermittent hypothermia; Irritability; Limb dystonia; Limb hypertonia; Miosis; Muscular hypotonia of the trunk; Myoclonus; Nasal obstruction; Ptosis; Sleep disturbance; Temperature instability
DDOST1p36.12100%gene with protein product602202Abnormality of the coagulation cascade; Accelerated skeletal maturation; Autosomal recessive inheritance; CNS hypomyelination; Constipation; Decreased liver function; Elevated hepatic transaminases; Esotropia; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hepatic steatosis; Infantile onset; Neurodevelopmental delay; Neurological speech impairment; Oromotor apraxia; Osteopenia; Recurrent ear infections; Seizures; Short stature; Strabismus; Tremor; Type I transferrin isoform profile
DDX3XXp11.499.31%gene with protein product300160DDX3Generalized hypotonia; Infantile onset; Intellectual disability; X-linked dominant inheritance; X-linked recessive inheritance
DEAF111p15.5100%gene with protein product602635Abnormal form of the vertebral bodies; Abnormal tracheobronchial morphology; Abnormality of cardiovascular system morphology; Absent speech; Aggressive behavior; Agitation; Anteverted nares; Anxiety; Aplasia/Hypoplasia of the corpus callosum; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Brachydactyly; Broad forehead; Chronic otitis media; Clinodactyly of the 5th finger; Conductive hearing impairment; Constipation; Corticospinal tract hypoplasia; Decreased fetal movement; Deeply set eye; Delayed eruption of primary teeth; Delayed speech and language development; Depressed nasal bridge; Dyskinesia; EEG abnormality; Failure to thrive in infancy; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hoarse voice; Horizontal eyebrow; Hyperacusis; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hyporeflexia; Impaired pain sensation; Infantile onset; Intellectual disability; Involuntary movements; Large face; Mandibular prognathia; Microcornea; Micrognathia; Midface retrusion; Mood swings; Muscular hypotonia; Myopia; Neurological speech impairment; Obesity; Open mouth; Pes planus; Poor eye contact; Recurrent infections; Scoliosis; Self-injurious behavior; Short nose; Short philtrum; Short stature; Sleep disturbance; Status epilepticus; Stereotypy; Strabismus; Synophrys; Taurodontia; Tented upper lip vermilion; Thick lower lip vermilion; Toe syndactyly; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridge
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
DNAAF415q21.3100%gene with protein product608706DYX1C1Autosomal recessive inheritance; Bronchiectasis; Chronic obstructive pulmonary disease; Ciliary dyskinesia; Immotile cilia; Infantile onset; Infertility; Recurrent respiratory infections; Recurrent sinusitis; Sinusitis; Situs inversus totalisHeterotaxy
DNAAF57p22.399.92%gene with protein productFormer name = HEATR2614864HEATR2Abnormal ciliary motility; Absent outer dynein arms; Autosomal recessive inheritance; Chronic bronchitis; Ciliary dyskinesia; Infantile onset; Male infertility; Nonmotile sperm; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Respiratory insufficiency; Respiratory insufficiency due to defective ciliary clearance; Rhinitis; Situs inversus totalisHeterotaxy
DOCK71p31.3100%gene with protein product615730Abnormality of the pinna; Autosomal recessive inheritance; Broad nasal tip; Cortical visual impairment; Epileptic encephalopathy; Global developmental delay; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypsarrhythmia; Infantile onset; Low anterior hairline; Narrow forehead; Periorbital fullness; Short philtrum; Telecanthus; Thick eyebrow; Thick vermilion border
DOCK89p24.3100%gene with protein product611432Asthma; Atopic dermatitis; Autosomal dominant inheritance; Autosomal recessive inheritance; B lymphocytopenia; Cerebral vasculitis; Chronic otitis media; Decrease in T cell count; Delayed speech and language development; Eczema; Eosinophilia; Global developmental delay; Hemiplegia; Increased IgE level; Infantile onset; Intellectual disability; Neoplasm; Onychomycosis; Pneumonia; Recurrent bacterial infections; Recurrent bacterial skin infections; Recurrent candida infections; Recurrent fungal infections; Recurrent sinopulmonary infections; Recurrent sinusitis; Recurrent viral infections; Severe viral infections; Skin ulcer; Subarachnoid hemorrhage; VerrucaeAutoimmune Disorders ; Ectodermal Dysplasia ; Inflammatory Bowel Disease
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
EARS216p12.2100%gene with protein product612799Absent speech; Autosomal recessive inheritance; Bradykinesia; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex III; Decreased activity of mitochondrial complex IV; Developmental regression; Dysplastic corpus callosum; Dystonia; Failure to thrive; Global developmental delay; Hypoplasia of the corpus callosum; Increased serum lactate; Infantile onset; Lactic acidosis; Leukoencephalopathy; Neonatal hypotonia; Ophthalmoplegia; Ptosis; Ragged-red muscle fibers; Seizures; Spastic tetraparesis; Visual impairment
EBF310q26.3100%gene with protein product607407Apraxia; Astigmatism; Autosomal dominant inheritance; Broad chin; Broad nasal tip; Cryptorchidism; Deep philtrum; Deeply set eye; Delayed speech and language development; Downslanted palpebral fissures; Downturned corners of mouth; Dysarthria; Dysmetria; Dysphagia; Epicanthus; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High forehead; Horizontal eyebrow; Hypertelorism; Infantile onset; Intellectual disability; Inverted nipples; Long face; Low-set ears; Micropenis; Myopathic facies; Oval face; Overfolded helix; Posteriorly rotated ears; Prominent forehead; Prominent nasal bridge; Short chin; Stereotypy; Strabismus; Synophrys; Thin upper lip vermilion; Triangular face; Vesicoureteral reflux
EDC315q24.1100%gene with protein product609842YJDCAutosomal recessive inheritance; Infantile onset; Intellectual disability; Intellectual disability, mild; Microcephaly
EEF1A220q13.33100%gene with protein product602959STNL, STNAggressive behavior; Autosomal dominant inheritance; Deeply set eye; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus; Epileptic encephalopathy; Everted lower lip vermilion; Global developmental delay; Hypsarrhythmia; Infantile onset; Intellectual disability; Intellectual disability, severe; Low-set ears; Microcephaly; Muscular hypotonia; Neonatal hypotonia; Postnatal microcephaly; Seizures; Tented upper lip vermilion; Unsteady gait
EEF1A220q13.33100%gene with protein product602959STNL, STNAggressive behavior; Autosomal dominant inheritance; Deeply set eye; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus; Epileptic encephalopathy; Everted lower lip vermilion; Global developmental delay; Hypsarrhythmia; Infantile onset; Intellectual disability; Intellectual disability, severe; Low-set ears; Microcephaly; Muscular hypotonia; Neonatal hypotonia; Postnatal microcephaly; Seizures; Tented upper lip vermilion; Unsteady gait
EGR210q21.3100%gene with protein product129010KROX20Abnormality of the cranial nerves; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital onset; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Foot dorsiflexor weakness; Generalized hypotonia; Hammertoe; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Increased CSF protein; Infantile onset; Juvenile onset; Kyphoscoliosis; Motor delay; Neonatal hypotonia; Onion bulb formation; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Segmental peripheral demyelination/remyelination; Sensory ataxia; Split hand; Steppage gait; Ulnar claw; Upper limb muscle weakness; Variable expressivity
EIF2AK32p11.299.85%gene with protein product604032Abnormal heart morphology; Abnormality of the metaphysis; Acute hepatic failure; Autosomal recessive inheritance; Barrel-shaped chest; Brachydactyly; Carpal bone hypoplasia; Chronic hepatic failure; Cone-shaped epiphyses of the phalanges of the hand; Coxa valga; Death in infancy; Dehydration; Delayed skeletal maturation; Depressed nasal bridge; Elevated hepatic transaminases; Enlarged thorax; Epicanthus; Epiphyseal dysplasia; Flattened epiphysis; Gait disturbance; Genu valgum; Global developmental delay; Glycosuria; Hepatomegaly; High forehead; High palate; Hip dislocation; Hip subluxation; Hyperglycemia; Hyperlordosis; Hypermetropia; Hypertelorism; Hypertonia; Hyperuricemia; Hypoplasia of the odontoid process; Infantile onset; Insulin-resistant diabetes mellitus; Intellectual disability; Intracerebral periventricular calcifications; Irregular carpal bones; Irregular tarsal ossification; Irregular vertebral endplates; Ivory epiphyses of the phalanges of the hand; Ivory epiphyses of the toes; Ketoacidosis; Microcephaly; Microdontia; Motor delay; Multiple epiphyseal dysplasia; Muscular hypotonia; Narrow iliac wings; Neutropenia; Osteopenia; Osteoporosis; Platyspondyly; Preauricular pit; Reduced pancreatic beta cells; Renal insufficiency; Renal tubular dysfunction; Short stature; Short thorax; Shortening of all middle phalanges of the fingers; Small epiphyses; Steatorrhea; Thin vermilion border; Transient neonatal diabetes mellitus; Triangular face; Type I diabetes mellitus; Upslanted palpebral fissure; Weight loss
ELANE19p13.3100%gene with protein product130130ELA2Abnormality of the mouth; Acute monocytic leukemia; Anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital agranulocytosis; Cyclic neutropenia; Eosinophilia; Fatigue; Fever; Growth abnormality; Increased antibody level in blood; Infantile onset; Monocytosis; Neutropenia; Oral ulcer; Overlapping toe; Periodontitis; Recurrent bacterial infections; Recurrent skin infections; Sepsis; ThrombocytosisAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
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
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
EXT211p11.2100%gene with protein product608210Abnormality of femur morphology; Abnormality of the dentition; Abnormality of the humerus; Abnormality of the metaphysis; Abnormality of tibia morphology; Anteverted nares; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Brachycephaly; Broad nasal tip; Cervical myelopathy; Chondrosarcoma; Coarse facial features; Constipation; Coxa vara; Cranial nerve paralysis; Cryptorchidism; Decreased skull ossification; Depressed nasal tip; Downturned corners of mouth; Epicanthus; Exostoses; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Genu valgum; Global developmental delay; Hypertelorism; Hypoplasia of the ulna; Infantile onset; Juvenile onset; Macrocephaly; Madelung deformity; Madelung-like forearm deformities; Micrognathia; Micromelia; Micropenis; Multiple exostoses; Muscle weakness; Nystagmus; Overlapping toe; Parietal foramina; Pelvic bone exostoses; Peripheral nerve compression; Poor speech; Prominent nasal bridge; Protuberances at ends of long bones; Radial bowing; Rib exostoses; Scapular exostoses; Scoliosis; Seizures; Short metacarpal; Short philtrum; Short stature; Strabismus; Underdeveloped nasal alae; Ventricular septal defect
FAM126A7p15.399.95%gene with protein product610531Abnormal pyramidal signs; Abnormality of the cerebellum; Autosomal recessive inheritance; Babinski sign; Cerebral hypomyelination; Cerebral white matter atrophy; Congenital cataract; Decreased motor nerve conduction velocity; Dysarthria; Global developmental delay; Hyperreflexia; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intention tremor; Leukodystrophy; Loss of ability to walk; Lower limb amyotrophy; Lower limb muscle weakness; Motor delay; Muscular hypotonia of the trunk; Polyneuropathy; Scoliosis; Seizures; Truncal titubation; Variable expressivity
FERMT311q13.199.96%gene with protein product607901Abnormal thrombocyte morphology; Abnormality of the lymph nodes; Anemia; Autosomal recessive inheritance; Hepatomegaly; Hepatosplenomegaly; Infantile onset; Leukocytosis; Pain; Petechiae; Recurrent bacterial infections; Recurrent skin infections; Sepsis; Splenomegaly; Subcutaneous nodule
FGD412p11.2199.97%gene with protein product611104Areflexia; Autosomal recessive inheritance; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal lower limb amyotrophy; Distal lower limb muscle weakness; Distal sensory impairment; Heterogeneous; Hyporeflexia; Infantile onset; Motor delay; Onion bulb formation; Peripheral demyelination; Pes cavus; Scoliosis; Talipes equinovarus; Upper limb muscle weakness; Waddling gait
FKTN9q31.299.98%gene with protein productJapanese founder variant in the 3' UTR of FKTN would not be detected by this test607440FCMDAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Blindness; Brachycephaly; Buphthalmos; Calf muscle hypertrophy; Camptodactyly of finger; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Encephalocele; Excessive daytime sleepiness; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pyramidal tract; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macrogyria; Mask-like facies; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myocardial fibrosis; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pectus excavatum; Peters anomaly; Phenotypic variability; Plagiocephaly; Polymicrogyria; Posterior fossa cyst; Progressive; Proximal muscle weakness; Pulmonic stenosis; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Transposition of the great arteries; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairment; Weak cryMuscular dystropy-dystroglycanopathy (Walker-Warburg)
FKTN9q31.299.98%gene with protein productJapanese founder variant in the 3' UTR of FKTN would not be detected by this test607440FCMDAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Blindness; Brachycephaly; Buphthalmos; Calf muscle hypertrophy; Camptodactyly of finger; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Encephalocele; Excessive daytime sleepiness; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pyramidal tract; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macrogyria; Mask-like facies; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myocardial fibrosis; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pectus excavatum; Peters anomaly; Phenotypic variability; Plagiocephaly; Polymicrogyria; Posterior fossa cyst; Progressive; Proximal muscle weakness; Pulmonic stenosis; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Transposition of the great arteries; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairment; Weak cryMuscular dystropy-dystroglycanopathy (Walker-Warburg)
FKTN9q31.299.98%gene with protein productJapanese founder variant in the 3' UTR of FKTN would not be detected by this test607440FCMDAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Blindness; Brachycephaly; Buphthalmos; Calf muscle hypertrophy; Camptodactyly of finger; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Encephalocele; Excessive daytime sleepiness; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pyramidal tract; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macrogyria; Mask-like facies; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myocardial fibrosis; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pectus excavatum; Peters anomaly; Phenotypic variability; Plagiocephaly; Polymicrogyria; Posterior fossa cyst; Progressive; Proximal muscle weakness; Pulmonic stenosis; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Transposition of the great arteries; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairment; Weak cryMuscular dystropy-dystroglycanopathy (Walker-Warburg)
FLNAXq2899.99%gene with protein product300017FLN1, FLN, OPD2, OPD1Abdominal distention; Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormal facial shape; Abnormal foot bone ossification; Abnormal form of the vertebral bodies; Abnormal hand bone ossification; Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormal vertebral segmentation and fusion; Abnormality of dental morphology; Abnormality of metabolism/homeostasis; Abnormality of neuronal migration; Abnormality of skin pigmentation; Abnormality of the coagulation cascade; Abnormality of the fifth metatarsal bone; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the ribs; Absent frontal sinuses; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Accessory carpal bones; Anisospondyly; Ankle contracture; Anodontia; Antegonial notching of mandible; Anterior concavity of thoracic vertebrae; Anteriorly placed odontoid process; Aortic regurgitation; Arachnodactyly; Bicuspid aortic valve; Bipartite calcaneus; Bowing of the long bones; Brachydactyly; Broad distal phalanx of the thumb; Broad face; Broad forehead; Broad hallux; Broad phalanges of the hand; Broad thumb; Bulbous tips of toes; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Cerebellar hypoplasia; Cleft palate; Coarse facial features; Coarse hair; Coat hanger sign of ribs; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Congenital hip dislocation; Congestive heart failure; Constipation; Cor pulmonale; Coxa valga; Craniofacial hyperostosis; Cryptorchidism; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Facial asymmetry; Failure to thrive; Feeding difficulties in infancy; Femoral bowing; Fibroma; Fibular aplasia; Flared iliac wings; Flared metaphysis; Flat face; Focal seizures; Frontal bossing; Frontal hirsutism; Full cheeks; Fused cervical vertebrae; Gait disturbance; Gastroesophageal reflux; Genu valgum; Global developmental delay; Glossoptosis; Hearing impairment; Hernia; Heterotopia; High palate; Hip dislocation; Hirsutism; Hoarse voice; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the musculature; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic scapulae; Hypospadias; Hypotrichosis; Increased bone mineral density; Increased density of long bone diaphyses; Increased mean platelet volume; Increased size of the mandible; Infantile onset; Intellectual disability; Intellectual disability, mild; Intestinal hypoplasia; Intestinal malrotation; Intestinal pseudo-obstruction; Iris coloboma; Irregular metacarpals; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Large fontanelles; Large foramen magnum; Large forehead; Lateral femoral bowing; Limitation of joint mobility; Limited elbow extension; Limited knee flexion; Lipoatrophy; Localized skin lesion; Long fingers; Long foot; Long metacarpals; Long neck; Long phalanx of finger; Low-set ears; Macrotia; Malar flattening; Micrognathia; Midface retrusion; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Motor delay; Multiple impacted teeth; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow chest; Narrow mouth; Neonatal hypotonia; Nonossified fifth metatarsal; Obtuse angle of mandible; Oligodontia; Omphalocele; Osteolytic defects of the phalanges of the hand; Overlapping fingers; Partial fusion of carpals; Partial fusion of tarsals; Patent ductus arteriosus; Pectus excavatum; Periventricular gray matter heterotopia; Persistence of primary teeth; Pes planus; Pierre-Robin sequence; Platyspondyly; Pointed chin; Postaxial hand polydactyly; Posterior vertebral hypoplasia; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Prominent occiput; Prominent supraorbital ridges; Proptosis; Proximal placement of thumb; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Pyloric stenosis; Radial bowing; Radial deviation of the 2nd finger; Recurrent otitis media; Recurrent respiratory infections; Reduced number of teeth; Respiratory failure; Rocker bottom foot; Rudimentary fibula; Sandal gap; Scapular winging; Sclerosis of skull base; Scoliosis; Seizures; Selective tooth agenesis; Sensorineural hearing impairment; Short 3rd metacarpal; Short 4th metacarpal; Short 5th metacarpal; Short chin; Short chordae tendineae of the mitral valve; Short chordae tendineae of the tricuspid valve; Short clavicles; Short distal phalanx of finger; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short nose; Short palm; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Small face; Smooth philtrum; Spondylolysis; Stillbirth; Strabismus; Stridor; Stroke; Synostosis of carpal bones; Talipes equinovarus; Thick skull base; Thickened calvaria; Thin skin; Thrombocytopenia; Tibial bowing; Toe clinodactyly; Toe syndactyly; Tricuspid regurgitation; Tricuspid valve prolapse; Ulnar bowing; Ulnar deviation of finger; Underdeveloped superior crus of antihelix; Undulate clavicles; Ureteral obstruction; Ureteral stenosis; Vertical clivus; Vesicoureteral reflux; Vomiting; Wide anterior fontanel; Wide nasal bridge; Wormian bones; Wrist flexion contracture; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
FMN21q4395.49%gene with protein product606373Autosomal recessive inheritance; Global developmental delay; Infantile onset; Intellectual disability; Poor speech
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
FRMD7Xq26.299.76%gene with protein product300628NYS, NYS1Congenital nystagmus; Heterogeneous; Horizontal nystagmus; Infantile onset; Pendular nystagmus; Reduced visual acuity; X-linked dominant inheritance; X-linked recessive inheritance
FZD411q14.2100%gene with protein product604579EVR1Autosomal dominant inheritance; Blindness; Exudative vitreoretinopathy; Falciform retinal fold; Infantile onset; Peripheral retinal avascularization; Posterior vitreous detachment; Premature birth; Recurrent fractures; Reduced visual acuity; Retinal detachment; Retinal exudate; Retinal neovascularization; Slow progression; Small for gestational age; Subcapsular cataract; Vitreous hemorrhage
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
GAD12q31.1100%gene with protein product605363GADAutosomal recessive inheritance; Babinski sign; Cerebral palsy; Flexion contracture; Global developmental delay; Heterogeneous; Hyperreflexia; Infantile onset; Intellectual disability; Microcephaly; Scoliosis; Seizures; Spastic diplegia; Spastic tetraplegia
GATA1Xp11.23100%gene with protein product305371GF1Abnormal bleeding; Abnormal blistering of the skin; Abnormal hemoglobin; Abnormal lactate dehydrogenase activity; Abnormal megakaryocyte morphology; Abnormal platelet function; Abnormal urinary color; Abnormality of multiple cell lineages in the bone marrow; Abnormality of reticulocytes; Abnormality of the foot; Abnormality of the genital system; Abnormality of the hand; Abnormality of the heme biosynthetic pathway; Abnormality of the urinary system; Acanthocytosis; Acute megakaryocytic leukemia; Aganglionic megacolon; Alzheimer disease; Anal atresia; Anemia; Anemia of inadequate production; Anisocytosis; Arrhythmia; Atlantoaxial instability; Atypical scarring of skin; Brachycephaly; Broad palm; Bruising susceptibility; Brushfield spots; Cleft palate; Complete atrioventricular canal defect; Conductive hearing impairment; Congenital thrombocytopenia; Cryptorchidism; Cutaneous photosensitivity; Delayed puberty; Duodenal stenosis; Elliptocytosis; Epicanthus; Epistaxis; Fatigue; Flat face; Hemolytic anemia; Hypertrichosis; Hypochromic anemia; Hypoplastic iliac wing; Hypothyroidism; Immunodeficiency; Increased hemoglobin; Infantile onset; Intellectual disability; Joint laxity; Macrocytic anemia; Macroglossia; Macrothrombocytopenia; Malar flattening; Microtia; Migraine; Muscular hypotonia; Myeloproliferative disorder; Neutropenia; Osteopenia; Pallor; Persistent bleeding after trauma; Petechiae; Poikilocytosis; Prolonged bleeding time; Protruding tongue; Recurrent fractures; Recurrent skin infections; Reticulocytosis; Shallow acetabular fossae; Short middle phalanx of the 5th finger; Short palm; Short stature; Single transverse palmar crease; Splenomegaly; Sporadic; Thickened nuchal skin fold; Thrombocytopenia; Upslanted palpebral fissure; Variable expressivity; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
GATA1Xp11.23100%gene with protein product305371GF1Abnormal bleeding; Abnormal blistering of the skin; Abnormal hemoglobin; Abnormal lactate dehydrogenase activity; Abnormal megakaryocyte morphology; Abnormal platelet function; Abnormal urinary color; Abnormality of multiple cell lineages in the bone marrow; Abnormality of reticulocytes; Abnormality of the foot; Abnormality of the genital system; Abnormality of the hand; Abnormality of the heme biosynthetic pathway; Abnormality of the urinary system; Acanthocytosis; Acute megakaryocytic leukemia; Aganglionic megacolon; Alzheimer disease; Anal atresia; Anemia; Anemia of inadequate production; Anisocytosis; Arrhythmia; Atlantoaxial instability; Atypical scarring of skin; Brachycephaly; Broad palm; Bruising susceptibility; Brushfield spots; Cleft palate; Complete atrioventricular canal defect; Conductive hearing impairment; Congenital thrombocytopenia; Cryptorchidism; Cutaneous photosensitivity; Delayed puberty; Duodenal stenosis; Elliptocytosis; Epicanthus; Epistaxis; Fatigue; Flat face; Hemolytic anemia; Hypertrichosis; Hypochromic anemia; Hypoplastic iliac wing; Hypothyroidism; Immunodeficiency; Increased hemoglobin; Infantile onset; Intellectual disability; Joint laxity; Macrocytic anemia; Macroglossia; Macrothrombocytopenia; Malar flattening; Microtia; Migraine; Muscular hypotonia; Myeloproliferative disorder; Neutropenia; Osteopenia; Pallor; Persistent bleeding after trauma; Petechiae; Poikilocytosis; Prolonged bleeding time; Protruding tongue; Recurrent fractures; Recurrent skin infections; Reticulocytosis; Shallow acetabular fossae; Short middle phalanx of the 5th finger; Short palm; Short stature; Single transverse palmar crease; Splenomegaly; Sporadic; Thickened nuchal skin fold; Thrombocytopenia; Upslanted palpebral fissure; Variable expressivity; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
GATAD2B1q21.3100%gene with protein product614998Autosomal dominant inheritance; Blepharophimosis; Broad forehead; Deeply set eye; Hypermetropia; Hypertelorism; Inappropriate laughter; Infantile onset; Long fingers; Long toe; Neonatal hypotonia; Poor speech; Thin upper lip vermilion; Wide mouth; Wide nasal bridge
GATM15q21.1100%gene with protein product602360Abnormality of creatine metabolism; Autism; Autosomal recessive inheritance; Delayed speech and language development; Failure to thrive; Global developmental delay; Infantile onset; Intellectual disability; Organic aciduria
GCH114q22.297.74%gene with protein product600225GCH, DYT5, DYT14Abnormality of eye movement; Abnormality of the substantia nigra; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Brisk reflexes; Childhood onset; Choreoathetosis; Decreased CSF homovanillic acid; Depressivity; Dysphagia; Dystonia; Episodic fever; Excessive salivation; Fatigue; Gait ataxia; Global developmental delay; Hearing impairment; Heterogeneous; Hyperkinesis; Hyperphenylalaninemia; Hyperreflexia; Infantile onset; Intellectual disability, progressive; Irritability; Lethargy; Limb dystonia; Limb hypertonia; Lower limb hyperreflexia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Pes cavus; Phenotypic variability; Postural tremor; Progressive neurologic deterioration; Rigidity; Scoliosis; Seizures; Severe muscular hypotonia; Sleep disturbance; Talipes equinovarus; Torticollis; Transient hyperphenylalaninemia; Tremor; Variable expressivity
GDAP18q21.1199.97%gene with protein product606598CMT4AAreflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration/regeneration; Axonal regeneration; Childhood onset; CNS hypomyelination; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; EMG: neuropathic changes; Flexion contracture; Foot dorsiflexor weakness; Hammertoe; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Inability to walk by childhood/adolescence; Infantile onset; Kyphoscoliosis; Limb muscle weakness; Motor delay; Neonatal onset; Onion bulb formation; Peripheral axonal degeneration; Peripheral demyelination; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Proximal muscle weakness; Rapidly progressive; Scoliosis; Spinal deformities; Split hand; Steppage gait; Talipes equinovarus; Ulnar claw; Vocal cord paresis
GDAP18q21.1199.97%gene with protein product606598CMT4AAreflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration/regeneration; Axonal regeneration; Childhood onset; CNS hypomyelination; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; EMG: neuropathic changes; Flexion contracture; Foot dorsiflexor weakness; Hammertoe; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Inability to walk by childhood/adolescence; Infantile onset; Kyphoscoliosis; Limb muscle weakness; Motor delay; Neonatal onset; Onion bulb formation; Peripheral axonal degeneration; Peripheral demyelination; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Proximal muscle weakness; Rapidly progressive; Scoliosis; Spinal deformities; Split hand; Steppage gait; Talipes equinovarus; Ulnar claw; Vocal cord paresis
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
GFI1B9q34.13100%gene with protein product604383Abnormal thrombocyte morphology; Abnormality of the menstrual cycle; Absence of alpha granules; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gastrointestinal hemorrhage; Infantile onset; Myelodysplasia; Myelofibrosis; Prolonged bleeding time; Reduced prothrombin consumption; Splenomegaly; Thrombocytopenia; Variable expressivity
GFPT12p13.399.97%gene with protein product138292GFPTAbnormality of the immune system; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Decreased fetal movement; Decreased muscle mass; Decreased size of nerve terminals; Dental malocclusion; Dysarthria; Dysphagia; Easy fatigability; EMG: decremental response of compound muscle action potential to repetitive nerve stimulation; Facial palsy; Fatigable weakness; Feeding difficulties; Generalized hypotonia; Gowers sign; High palate; Infantile onset; Juvenile onset; Long face; Mandibular prognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle cramps; Muscular hypotonia; Neck muscle weakness; Nonprogressive; Ophthalmoparesis; Proximal amyotrophy; Ptosis; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Strabismus; Type 2 muscle fiber atrophy; Variable expressivity; Waddling gait; Weak cry
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
GJB213q12.11100%gene with protein product121011DFNB1, DFNA3Abnormality of corneal stroma; Abnormality of the eyelashes; Absent eyelashes; Alopecia; Amniotic constriction ring; Aplasia/Hypoplasia of the eyebrow; Autoamputation of digits; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cognitive impairment; Conductive hearing impairment; Corneal neovascularization; Corneal scarring; Corneal ulceration; Digenic inheritance; Dilatated internal auditory canal; Dystrophic fingernails; Dystrophic toenail; Elbow flexion contracture; Erythema; Erythroderma; Fine hair; Furrowed tongue; Generalized hyperkeratosis; Hearing impairment; Honeycomb palmoplantar keratoderma; Hyperkeratosis; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplastic fingernail; Hypoplastic toenails; Ichthyosis; Infantile onset; Keratitis; Keratoconjunctivitis sicca; Knee flexion contracture; Leukonychia; Macule; Nail dysplasia; Nail dystrophy; Oral leukoplakia; Osteolysis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Pes cavus; Photophobia; Progressive sensorineural hearing impairment; Punctate keratitis; Recurrent bacterial skin infections; Recurrent corneal erosions; Scarring alopecia of scalp; Sensorineural hearing impairment; Skin ulcer; Sparse and thin eyebrow; Sparse eyelashes; Sparse hair; Squamous cell carcinoma; Stapes ankylosis; Subcutaneous nodule; Trichiasis; Visual impairment; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
GJB31p34.3100%gene with protein product603324DFNA2, EKVAbnormal blistering of the skin; Alopecia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Cutaneous photosensitivity; Diabetes mellitus; Digenic inheritance; Dry skin; Epidermal acanthosis; Erythema; Generalized hyperkeratosis; Glaucoma; High-frequency hearing impairment; Hypergranulosis; Hypermelanotic macule; Infantile onset; Microcephaly; Patchy palmoplantar keratoderma; Sensorineural hearing impairment; Short stature; Skin rash; Weight lossPalmoplantar keratoderma plus congenital ichthyosis
GJB41p34.3100%gene with protein product605425Abnormal blistering of the skin; Alopecia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Cutaneous photosensitivity; Diabetes mellitus; Dry skin; Epidermal acanthosis; Erythema; Generalized hyperkeratosis; Glaucoma; Hypergranulosis; Hypermelanotic macule; Infantile onset; Microcephaly; Patchy palmoplantar keratoderma; Short stature; Skin rash; Weight lossPalmoplantar 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
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
GLRX514q32.13100%gene with protein product609588C14orf87Anemia; Anisocytosis; Autosomal recessive inheritance; Babinski sign; Conjugated hyperbilirubinemia; Decreased activity of the pyruvate dehydrogenase complex; Decreased mean corpuscular volume; Dysarthria; Elevated hepatic iron concentration; Elevated hepatic transaminases; Erythroid hyperplasia; Gait disturbance; Hepatomegaly; Hepatosplenomegaly; Heterogeneous; Hyperglycinemia; Hyperreflexia; Hypoplasia of the corpus callosum; Increased serum ferritin; Infantile onset; Jaundice; Leukodystrophy; Nystagmus; Optic atrophy; Seizures; Spastic ataxia; Spastic diplegia; Splenomegaly; Strabismus; Type II diabetes mellitus; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes
GNAS20q13.3299.88%gene with protein product139320GNAS1Abnormality of the musculature; Abnormality of the skin; Adult onset; Agitation; Anxiety; Autosomal dominant inheritance; Basal ganglia calcification; Blindness; Bone pain; Brachydactyly; Broad 1st metacarpal; Bruising susceptibility; Cardiomyopathy; Cataract; Choroid plexus calcification; Coarse facial features; Cognitive impairment; Constrictive median neuropathy; Craniofacial hyperostosis; Decreased circulating ACTH level; Delayed eruption of teeth; Depressed nasal bridge; Depressivity; Diabetes mellitus; Ectopic calcification; Ectopic ossification; Ectopic ossification in muscle tissue; Elevated circulating parathyroid hormone level; Facial asymmetry; Failure to thrive; Fatigue; Fibrous dysplasia of the bones; Full cheeks; Galactorrhea; Generalized hirsutism; Generalized hyperpigmentation; Growth delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Hyperparathyroidism; Hyperphosphatemia; Hypertension; Hyperthyroidism; Hypocalcemia; Hypocalcemic tetany; Hypogonadism; Hypophosphatemia; Hypoplasia of dental enamel; Hypothyroidism; Increased bone mineral density; Increased circulating cortisol level; Increased serum insulin-like growth factor 1; Infantile onset; Intellectual disability; Intestinal polyposis; Juvenile onset; Kyphosis; Large cafe-au-lait macules with irregular margins; Left ventricular hypertrophy; Limitation of joint mobility; Low urinary cyclic AMP response to PTH administration; Macronodular adrenal hyperplasia; Menometrorrhagia; Menstrual irregularities; Mental deterioration; Mood changes; Multiple cafe-au-lait spots; Muscle weakness; Neoplasm; Nephrolithiasis; Nystagmus; Obesity; Osteoma; Osteopenia; Osteoporosis; Pathologic fracture; Phenotypic variability; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary prolactin cell adenoma; Pituitary resistance to thyroid hormone; Polyostotic fibrous dysplasia; Polyphagia; Precocious puberty; Primary hypercorticolism; Progressive; Prolactin excess; Prolactinoma; Pseudohypoparathyroidism; Psychosis; Recurrent fractures; Reduced bone mineral density; Round face; Seizures; Short 4th metacarpal; Short 5th metacarpal; Short fifth metatarsal; Short finger; Short metacarpal; Short metatarsal; Short neck; Short stature; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Somatic mosaicism; Somatic mutation; Sporadic; Striae distensae; Subcutaneous nodule; Thickened calvaria; Thin skin; Truncal obesity; Variable expressivityObesity
GNB11p36.33100%gene with protein product139380Acute lymphoblastic leukemia; Autosomal dominant inheritance; EEG abnormality; Failure to thrive; Generalized hypotonia; Global developmental delay; Impaired smooth pursuit; Infantile onset; Intellectual disability; Limb hypertonia; Nystagmus; Polygenic inheritance; Seizures; Strabismus
GP619q13.4291.35%gene with protein product605546Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Infantile onset; Menorrhagia; Prolonged bleeding time; Variable expressivity
GPD112q13.1299.87%gene with protein product138420Autosomal recessive inheritance; Elevated hepatic transaminases; Hepatic fibrosis; Hepatic steatosis; Hepatomegaly; Hypertriglyceridemia; Infantile onset; Short stature
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
GRID24q22.1-q22.2100%gene with protein product602368Autosomal recessive inheritance; Cerebellar atrophy; Cognitive impairment; Dysarthria; Dysdiadochokinesis; Dysmetria; Esotropia; Gait ataxia; Generalized hypotonia; Global developmental delay; Incoordination; Infantile onset; Nystagmus; Oculomotor apraxia; Poor speech; Truncal ataxia
GRIK26q16.399.63%gene with protein product138244GLUR6Autosomal recessive inheritance; Global developmental delay; Infantile onset; Intellectual disability
GRIN2D19q13.3399.59%gene with protein product602717NMDAR2DAutosomal dominant inheritance; Cortical visual impairment; Dysphagia; Epileptic encephalopathy; Failure to thrive; Feeding difficulties; Global developmental delay; Hypsarrhythmia; Infantile onset; Microcephaly; Muscular hypotonia of the trunk; Pes planus; Seizures
GRM16q24.3100%gene with protein product604473Abnormal pyramidal signs; Autosomal recessive inheritance; Cerebellar atrophy; Dysarthria; Dysdiadochokinesis; Dysmetria; Esotropia; Generalized hypotonia; Global developmental delay; Horizontal nystagmus; Hyperreflexia; Hypometric saccades; Infantile onset; Inferior vermis hypoplasia; Intellectual disability; Pes planus; Ptosis; Retrocerebellar cyst; Short stature; Slow progression; Tremor; Ventriculomegaly
HAX11q21.3100%gene with protein product605998Autosomal recessive inheritance; Infantile onset; Leukemia; Myelodysplasia; Neutropenia; Recurrent bacterial infectionsAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
HCFC1Xq2899.98%gene with protein product300019HFC1, MRX3Brachycephaly; Failure to thrive; Generalized hypotonia; Hypsarrhythmia; Infantile onset; Intellectual disability; Methylmalonic acidemia; Methylmalonic aciduria; Microcephaly; Short stature; X-linked inheritance; X-linked recessive inheritance
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
HERC215q13.199.37%gene with protein product605837Abdominal obesity; Aggressive behavior; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Blue irides; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperactivity; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infantile onset; Infertility; Intellectual disability; Kyphosis; Mandibular prognathia; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palate; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Plagiocephaly; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Sandal gap; Scoliosis; Self-mutilation; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Strabismus; Thin upper lip vermilion; Unsteady gait; Ventriculomegaly
HEXA15q23100%gene with protein product606869Apathy; Aspiration; Autosomal recessive inheritance; Blindness; Cherry red spot of the macula; Dementia; Exaggerated startle response; Generalized hypotonia; GM2-ganglioside accumulation; Infantile onset; Muscular hypotonia; Poor head control; Psychomotor deterioration; Seizures
HIBCH2q32.299.98%gene with protein product610690Abnormal facial shape; Abnormal vertebral morphology; Agenesis of corpus callosum; Aminoaciduria; Autosomal recessive inheritance; Developmental regression; Dysmetria; Dystonia; Epicanthus; Feeding difficulties; Generalized hypotonia; Global developmental delay; Infantile onset; Muscular hypotonia; Myoclonus; Nystagmus; Seizures; Strabismus; Tetralogy of Fallot
HIKESHI11q14.299.89%gene with protein product614908C11orf73Abnormality of the periventricular white matter; Autosomal recessive inheritance; Clonus; Delayed myelination; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized hypotonia; Global developmental delay; Infantile onset; Nystagmus; Spasticity
HIVEP26q24.2100%gene with protein product143054Abnormal facial shape; Anxiety; Autistic behavior; Autosomal dominant inheritance; Constipation; Feeding difficulties; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hyperactivity; Impulsivity; Infantile onset; Intellectual disability; Narrow mouth; Prominent nasal bridge; Tapered finger; Wide nasal bridge
HNF1A12q24.31100%gene with protein product142410MODY3, TCF1Abnormality of fatty-acid metabolism; Agitation; Autosomal dominant inheritance; Coma; Diarrhea; Drowsiness; Elevated hepatic transaminases; Fasting hypoglycemia; Fatigue; Hepatocellular adenoma; Hepatomegaly; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hypoketotic hypoglycemia; Infantile onset; Intellectual disability; Large for gestational age; Lethargy; Maturity-onset diabetes of the young; Neonatal hypoglycemia; Neonatal hypotonia; Pallor; Pancreatic islet-cell hyperplasia; Polycystic ovaries; Progressive neurologic deterioration; Renal cell carcinoma; Seizures; Sporadic; Tachycardia; Tremor; Type I diabetes mellitus; Type II diabetes mellitus; Vomiting
HNMT2q22.199.76%gene with protein product605238Autosomal recessive inheritance; Delayed speech and language development; Global developmental delay; Infantile onset; Intellectual disability; Intellectual disability, severe; Microcephaly
HNRNPU1q4499.91%gene with protein product602869HNRPU, HNRNPU-AS1, C1orf199, NCRNA00201Abnormal cardiac septum morphology; Agenesis of corpus callosum; Autosomal dominant inheritance; Delayed myelination; Delayed speech and language development; EEG abnormality; Epicanthus; Epileptic encephalopathy; Generalized hypotonia; Generalized tonic-clonic seizures; Global developmental delay; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, severe; Microcephaly; Micrognathia; Muscular hypotonia; Seizures; Short stature; Smooth philtrum; Strabismus; Telecanthus; Thin vermilion border; Upslanted palpebral fissure; Ventriculomegaly
HSD17B10Xp11.22100%gene with protein product300256HADH2, MRXS10Abnormality of movement; Aggressive behavior; Agitation; Arachnodactyly; Behavioral abnormality; Broad-based gait; Cerebral cortical atrophy; Choreoathetosis; Delayed speech and language development; Developmental regression; Dysarthria; Generalized hypotonia; Global developmental delay; Hallucinations; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Infantile axial hypotonia; Infantile onset; Intellectual disability; Lactic acidosis; Lumbar hyperlordosis; Metabolic acidosis; Motor delay; Nystagmus; Optic atrophy; Phenotypic variability; Progressive neurologic deterioration; Psychosis; Retinal degeneration; Seizures; Sensorineural hearing impairment; Spastic tetraplegia; Spasticity; Visual loss; X-linked dominant inheritance; X-linked recessive inheritance
HSD17B10Xp11.22100%gene with protein product300256HADH2, MRXS10Abnormality of movement; Aggressive behavior; Agitation; Arachnodactyly; Behavioral abnormality; Broad-based gait; Cerebral cortical atrophy; Choreoathetosis; Delayed speech and language development; Developmental regression; Dysarthria; Generalized hypotonia; Global developmental delay; Hallucinations; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Infantile axial hypotonia; Infantile onset; Intellectual disability; Lactic acidosis; Lumbar hyperlordosis; Metabolic acidosis; Motor delay; Nystagmus; Optic atrophy; Phenotypic variability; Progressive neurologic deterioration; Psychosis; Retinal degeneration; Seizures; Sensorineural hearing impairment; Spastic tetraplegia; Spasticity; Visual loss; X-linked dominant inheritance; X-linked recessive inheritance
HSD17B45q23.199.97%gene with protein product601860Abnormal facial shape; Aplasia/Hypoplasia of the cerebellum; Autosomal recessive inheritance; Bile duct proliferation; Calcific stippling; Cerebral dysmyelination; Cholestasis; Corpus callosum atrophy; Cortical dysplasia; Decreased muscle mass; Delayed cranial suture closure; Delayed skeletal maturation; Depressed nasal bridge; Elevated hepatic transaminases; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Fetal ascites; Frontal bossing; Gait ataxia; Generalized cerebral atrophy/hypoplasia; Gliosis; Global developmental delay; Gonadal dysgenesis; Hammertoe; Hepatic steatosis; Hepatomegaly; High forehead; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Increased circulating gonadotropin level; Infantile onset; Large fontanelles; Limited extraocular movements; Long philtrum; Low-set ears; Macrocephaly; Micrognathia; Neonatal hypotonia; Nystagmus; Osteopenia; Osteoporosis; Pectus excavatum; Pes cavus; Phenotypic variability; Polyhydramnios; Polymicrogyria; Primary adrenal insufficiency; Primary amenorrhea; Renal cyst; Retrognathia; Scaphocephaly; Scoliosis; Seizures; Sensorineural hearing impairment; Short stature; Split hand; Strabismus; Talipes equinovarus; Thoracic hypoplasia; Undetectable electroretinogram; Upslanted palpebral fissure; Ventriculomegaly; Visual impairment; Visual loss
HYDIN16q22.283.74%gene with protein product610812Autosomal recessive inheritance; Bronchiectasis; Ciliary dyskinesia; Infantile onset; Nasal polyposis; Recurrent bronchitis; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Respiratory insufficiency due to defective ciliary clearance; Rhinitis
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
IGHM14q32.33immunoglobulin geneXomeDxSlice is not appropriate.147020Agammaglobulinemia; Arthritis; Autosomal recessive inheritance; B lymphocytopenia; Bronchiectasis; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Neutropenia; Osteomyelitis; Recurrent bacterial infections; Recurrent enteroviral infections; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent sinusitis; Recurrent skin infections; Sinusitis; Skin rash
IGLL122q11.23100%gene with protein product146770IGLLAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Meningitis; Osteomyelitis; Recurrent bacterial infections; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
IKBKB8p11.21100%gene with protein product603258Agammaglobulinemia; Autosomal recessive inheritance; Chronic diarrhea; Failure to thrive; Immunodeficiency; Infantile onset; Respiratory tract infection
IL214q27100%gene with protein product605384Autosomal recessive inheritance; Chronic diarrhea; Decreased antibody level in blood; Failure to thrive; Growth delay; Immunodeficiency; Infantile onset; Inflammation of the large intestine; Recurrent respiratory infectionsAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
ILDR13q13.33100%gene with protein product609739DFNB42Autosomal recessive inheritance; Infantile onset; Nonprogressive; Sensorineural hearing impairment
IMPDH17q32.1100%gene with protein product146690RP10Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Atypical scarring of skin; Autosomal dominant inheritance; Blindness; Bone spicule pigmentation of the retina; Cataract; Conductive hearing impairment; Constriction of peripheral visual field; Encephalocele; Glaucoma; Hemiplegia/hemiparesis; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Infantile onset; Intellectual disability; Keratoconus; Muscular hypotonia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Undetectable light- and dark-adapted electroretinogram; Visual impairment; Wide nasal bridge
IRF816q24.1100%gene with protein product601565ICSBP1Abnormality of immune system physiology; Autosomal dominant inheritance; Autosomal recessive inheritance; Failure to thrive; Fever; Immunodeficiency; Infantile onset; Lymphadenopathy; Recurrent infections
ITGA712q13.2100%gene with protein product600536Autosomal recessive inheritance; Cognitive impairment; Congenital muscular dystrophy; Elevated serum creatine phosphokinase; Fatty replacement of skeletal muscle; Increased variability in muscle fiber diameter; Infantile muscular hypotonia; Infantile onset; Intellectual disability; Motor delay; Muscular hypotonia; Myopathy; Neonatal hypotonia; Pectus excavatum; Recurrent respiratory infections; Reduced tendon reflexes; Scoliosis; Skeletal muscle atrophyRhabdomyolysis
ITPA20p13100%gene with protein product147520C20orf37Autosomal recessive inheritance; Brain atrophy; Cerebral atrophy; Death in infancy; Delayed CNS myelination; Encephalopathy; High pitched voice; Infantile onset; Intrauterine growth retardation; Irritability; Limb tremor; Severe muscular hypotonia; Status epilepticus
JAG120p12.2100%gene with protein product601920AGS, JAGL1Abnormal nasal morphology; Abnormality of the ribs; Areflexia; Atrial septal defect; Autosomal dominant inheritance; Axenfeld anomaly; Band keratopathy; Brachydactyly; Broad forehead; Butterfly vertebral arch; Cataract; Chorioretinal atrophy; Cirrhosis; Clinodactyly of the 5th finger; Coarctation of aorta; Cryptorchidism; Deeply set eye; Depressed nasal bridge; Dolichocephaly; Elevated hepatic transaminases; Exocrine pancreatic insufficiency; Failure to thrive; Hemivertebrae; Hepatocellular carcinoma; Hypercholesterolemia; Hypertelorism; Hypertriglyceridemia; Hypoplasia of the ulna; Incomplete penetrance; Infantile onset; Intrauterine growth retardation; Long nose; Macrotia; Microcornea; Multiple small medullary renal cysts; Myopia; Papillary thyroid carcinoma; Peripheral pulmonary artery stenosis; Pigmentary retinopathy; Posterior embryotoxon; Preauricular pit; Prolonged neonatal jaundice; Proptosis; Reduced number of intrahepatic bile ducts; Renal dysplasia; Renal hypoplasia; Renal tubular acidosis; Short distal phalanx of finger; Specific learning disability; Strabismus; Stroke; Tetralogy of Fallot; Thin vermilion border; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Vesicoureteral refluxVACTERL Association
JPH18q21.11100%gene with protein product605266Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal regeneration; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Heterogeneous; Infantile onset; Kyphoscoliosis; Proximal muscle weakness; Split hand; Talipes equinovarus
KATNB116q21100%gene with protein product602703Autosomal recessive inheritance; Cognitive impairment; Cortical gyral simplification; Global developmental delay; Hypoplasia of the corpus callosum; Infantile onset; Lissencephaly; Microcephaly; Pachygyria; Partial agenesis of the corpus callosum; Polymicrogyria; Sloping forehead; Ventriculomegaly
KCNA21p13.3100%gene with protein product176262Ataxia; Autosomal dominant inheritance; Epileptic encephalopathy; Infantile onset; Intellectual disability; Myoclonus; Seizures; Tremor
KCNB120q13.13100%gene with protein product600397Autosomal dominant inheritance; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Hypsarrhythmia; Infantile onset; Seizures
KCNH11q32.2100%gene with protein product603305Absent nail of hallux; Adducted thumb; Aortic arch aneurysm; Aortic root aneurysm; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad hallux; Broad thumb; Cardiomyopathy; Cataract; Coarse facial features; Delayed eruption of teeth; Depressed nasal bridge; Downturned corners of mouth; Epicanthus; Flat forehead; Generalized hypotonia; Gingival fibromatosis; Gingival overgrowth; Global developmental delay; Growth abnormality; Hepatomegaly; High palate; Hirsutism; Hyperextensibility of the finger joints; Hypertelorism; Hypoplastic thumbnail; Infantile onset; Intellectual disability, progressive; Intellectual disability, severe; Long penis; Long philtrum; Mandibular prognathia; Myopathic facies; Myopia; Patent ductus arteriosus; Posteriorly rotated ears; Pseudoepiphysis of the thumb; Scoliosis; Seizures; Short distal phalanx of finger; Short distal phalanx of toe; Small nail; Spina bifida occulta; Splenomegaly; Synophrys; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Umbilical hernia; Wide mouth; Wide nasal bridge; Wide nose
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
KCNQ220q13.33100%gene with protein product602235EBN, EBN1Abnormal globus pallidus morphology; Abnormality of vision; Apnea; Autosomal dominant inheritance; Cerebral edema; Choreoathetosis; Deeply set eye; Dysesthesia; Dyskinesia; Dystonia; EEG with burst suppression; Epileptic encephalopathy; Epileptic spasms; Facial erythema; Feeding difficulties; Focal clonic seizures; Generalized hypotonia; Generalized tonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Heterogeneous; Hypertonia; Inability to walk; Infantile onset; Intellectual disability; Muscular hypotonia; Myoclonus; Myokymia; Neonatal onset; Pallor; Phenotypic variability; Poor gross motor coordination; Profound global developmental delay; Reduced consciousness/confusion; Seizures; Spastic tetraparesis
KIDINS2202p25.199.99%gene with protein product615759Astigmatism; Autosomal dominant inheritance; Cerebral atrophy; Deeply set eye; Delayed myelination; Delayed speech and language development; Dilation of lateral ventricles; Esotropia; Full cheeks; Global developmental delay; Hypermetropia; Hyperreflexia; Infantile onset; Intellectual disability; Limb hypertonia; Muscular hypotonia of the trunk; Nystagmus; Prominent forehead; Reduced visual acuity; Spastic paraplegiaObesity
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
KITLG12q21.32100%gene with protein product184745MGFAutosomal dominant inheritance; Cafe-au-lait spot; Heterochromia iridis; Hyperkeratosis; Hypopigmented skin patches; Infantile onset; Multiple lentigines; Premature graying of hair; Progressive hyperpigmentation; Sensorineural hearing impairment; White forelockWaardenburg Syndrome
KRT8112q13.1379.71%gene with protein product602153KRTHB1Abnormal eyebrow morphology; Abnormality of metabolism/homeostasis; Abnormality of the eyelashes; Abnormality of the nail; Alopecia; Autosomal dominant inheritance; Brittle hair; Fine hair; Follicular hyperkeratosis; Heterogeneous; Hypotrichosis; Infantile onset; Nail dysplasia; Nail dystrophy; Patchy alopecia; Perifollicular hyperkeratosis; Slow-growing hair; Variable expressivity
KRT8312q13.13100%gene with protein product602765KRTHB3Abnormal eyebrow morphology; Abnormality of metabolism/homeostasis; Abnormality of the eyelashes; Abnormality of the nail; Alopecia; Autosomal dominant inheritance; Brittle hair; Erythema; Fine hair; Follicular hyperkeratosis; Heterogeneous; Hypotrichosis; Infantile onset; Nail dysplasia; Nail dystrophy; Palmoplantar keratoderma; Patchy alopecia; Perifollicular hyperkeratosis; Skin plaque; Slow-growing hair; Variable expressivity
KRT8612q1379.34%gene with protein product601928KRTHB6Abnormal eyebrow morphology; Abnormality of metabolism/homeostasis; Abnormality of the eyelashes; Abnormality of the nail; Alopecia; Autosomal dominant inheritance; Brittle hair; Fine hair; Follicular hyperkeratosis; Heterogeneous; Hypotrichosis; Infantile onset; Nail dysplasia; Nail dystrophy; Patchy alopecia; Perifollicular hyperkeratosis; Slow-growing hair; Variable expressivity
L2HGDH14q21.399.82%gene with protein product609584C14orf160Abnormal pyramidal signs; Abnormality of extrapyramidal motor function; Aplasia/Hypoplasia of the cerebellum; Autosomal recessive inheritance; Behavioral abnormality; Cerebellar atrophy; Corpus callosum atrophy; Developmental regression; Dysphasia; Encephalitis; Gliosis; Global brain atrophy; Hearing impairment; Infantile onset; Intellectual disability, progressive; Intellectual disability, severe; L-2-hydroxyglutaric acidemia; L-2-hydroxyglutaric aciduria; Leukoencephalopathy; Macrocephaly; Morphological abnormality of the pyramidal tract; Muscular hypotonia; Neoplasm of the nervous system; Nystagmus; Optic atrophy; Seizures; Severe demyelination of the white matter; Spastic tetraparesis; Strabismus
LAMA318q11.299.98%gene with protein product600805LAMNAAbnormal blistering of the skin; Abnormality of skin pigmentation; Abnormality of the eye; Amelogenesis imperfecta; Anemia; Anonychia; Aplasia cutis congenita; Atrophic scars; Autosomal recessive inheritance; Camptodactyly of finger; Carious teeth; Congenital localized absence of skin; Congenital onset; Death in infancy; Dehydration; Dyspnea; Esophageal stricture; Failure to thrive; Feeding difficulties; Fragile nails; Heterogeneous; Hoarse cry; Hoarse voice; Hypodontia; Hypoplasia of dental enamel; Infantile onset; Junctional split; Laryngeal stenosis; Laryngeal stridor; Milia; Nail dysplasia; Nail dystrophy; Oral mucosal blisters; Palmar hyperhidrosis; Paronychia; Plantar hyperkeratosis; Pyloric stenosis; Recurrent loss of toenails and fingernails; Scarring alopecia of scalp; Skin erosion; Skin ulcer; Sparse body hair; Weak cryPalmoplantar keratoderma plus congenital ichthyosis
LARGE122q12.3100%gene with protein productFormer name = LARGE603590LARGEAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of neuronal migration; Abnormality of the periventricular white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Babinski sign; Blindness; Buphthalmos; Cataract; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased light- and dark-adapted electroretinogram amplitude; EEG abnormality; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Horizontal nystagmus; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Joint contracture of the hand; Lissencephaly; Lower limb hyperreflexia; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal muscle weakness; Renal dysplasia; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Short stature; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Type II lissencephaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg)
LCK1p35.2100%gene with protein product153390Autoimmunity; Autosomal recessive inheritance; Diarrhea; Failure to thrive; Immunodeficiency; Infantile onset; Panniculitis; Recurrent respiratory infections
LIPT12q11.2100%gene with protein product610284Abnormality of extrapyramidal motor function; Abnormality of the cerebral white matter; Autosomal recessive inheritance; Bradycardia; Cerebellar atrophy; Death in infancy; Decreased liver function; Delayed myelination; Dystonia; Elevated hepatic transaminases; Global developmental delay; Increased serum lactate; Increased total bilirubin; Infantile onset; Lactic acidosis; Muscular hypotonia of the trunk; Pulmonary arterial hypertension; Spastic tetraparesis
LMAN2L2q11.2100%gene with protein product609552Autosomal recessive inheritance; Global developmental delay; Infantile onset; Intellectual disability, severe; Seizures
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
LRP511q13.2100%gene with protein product603506LRP7, OPPG, EVR1Abdominal distention; Abnormal cortical bone morphology; Abnormal form of the vertebral bodies; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the ribs; Abnormality of the vertebral column; Absent anterior chamber of the eye; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Blindness; Brachycephaly; Broad forehead; Broad jaw; Cataract; Clavicular sclerosis; Conductive hearing impairment; Cranial hyperostosis; Craniofacial hyperostosis; Craniosynostosis; Dental malocclusion; Diaphyseal thickening; Exudative vitreoretinopathy; Facial palsy; Falciform retinal fold; Flat forehead; Generalized hypotonia; Generalized osteosclerosis; Glioma; Growth abnormality; Headache; Hepatomegaly; Heterogeneous; High forehead; Horizontal pendular nystagmus; Hypertelorism; Increased bone mineral density; Increased susceptibility to fractures; Infantile onset; Intellectual disability, mild; Iris atrophy; Joint hypermobility; Kyphoscoliosis; Macrocephaly; Mandibular prognathia; Metacarpal diaphyseal endosteal sclerosis; Metaphyseal widening; Metatarsal diaphyseal endosteal sclerosis; Microcephaly; Microphthalmia; Multiple renal cysts; Osteopenia; Osteopetrosis; Osteoporosis; Pathologic fracture; Peripheral retinal avascularization; Phthisis bulbi; Platyspondyly; Polycystic liver disease; Posterior vitreous detachment; Premature birth; Recurrent fractures; Reduced visual acuity; Retinal detachment; Retinal exudate; Retinal neovascularization; Sensorineural hearing impairment; Short stature; Slow progression; Small for gestational age; Subcapsular cataract; Thickened calvaria; Thickened cortex of long bones; Torus palatinus; Tractional retinal detachment; Ventricular septal defect; Vertebral body sclerosis; Vitreoretinopathy; Vitreous hemorrhage
LRP511q13.2100%gene with protein product603506LRP7, OPPG, EVR1Abdominal distention; Abnormal cortical bone morphology; Abnormal form of the vertebral bodies; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the ribs; Abnormality of the vertebral column; Absent anterior chamber of the eye; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Blindness; Brachycephaly; Broad forehead; Broad jaw; Cataract; Clavicular sclerosis; Conductive hearing impairment; Cranial hyperostosis; Craniofacial hyperostosis; Craniosynostosis; Dental malocclusion; Diaphyseal thickening; Exudative vitreoretinopathy; Facial palsy; Falciform retinal fold; Flat forehead; Generalized hypotonia; Generalized osteosclerosis; Glioma; Growth abnormality; Headache; Hepatomegaly; Heterogeneous; High forehead; Horizontal pendular nystagmus; Hypertelorism; Increased bone mineral density; Increased susceptibility to fractures; Infantile onset; Intellectual disability, mild; Iris atrophy; Joint hypermobility; Kyphoscoliosis; Macrocephaly; Mandibular prognathia; Metacarpal diaphyseal endosteal sclerosis; Metaphyseal widening; Metatarsal diaphyseal endosteal sclerosis; Microcephaly; Microphthalmia; Multiple renal cysts; Osteopenia; Osteopetrosis; Osteoporosis; Pathologic fracture; Peripheral retinal avascularization; Phthisis bulbi; Platyspondyly; Polycystic liver disease; Posterior vitreous detachment; Premature birth; Recurrent fractures; Reduced visual acuity; Retinal detachment; Retinal exudate; Retinal neovascularization; Sensorineural hearing impairment; Short stature; Slow progression; Small for gestational age; Subcapsular cataract; Thickened calvaria; Thickened cortex of long bones; Torus palatinus; Tractional retinal detachment; Ventricular septal defect; Vertebral body sclerosis; Vitreoretinopathy; Vitreous hemorrhage
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
MAGEL215q11.2100%gene with protein product605283NDNL1Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Clinodactyly; Clitoral hypoplasia; Coarse facial features; Constipation; Cryptorchidism; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Esotropia; Failure to thrive in infancy; Feeding difficulties; Flexion contracture; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infantile onset; Infertility; Intellectual disability; Kyphosis; Micropenis; Motor delay; Myopia; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Neonatal hypotonia; Obesity; Oligomenorrhea; Open mouth; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; VentriculomegalyObesity
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
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
METTL2317q25.2100%gene with protein product615262C17orf95Autosomal recessive inheritance; Cognitive impairment; Global developmental delay; Infantile onset; Intellectual disability; Variable expressivity
MFF2q36.3100%gene with protein product614785C2orf33Absent speech; Autosomal recessive inheritance; Cerebellar atrophy; Dysphagia; External ophthalmoplegia; Global developmental delay; Hyperreflexia; Hypsarrhythmia; Inability to walk; Infantile onset; Microcephaly; Optic atrophy; Peripheral neuropathy; Progressive; Seizures; Severe muscular hypotonia; Spasticity; Visual impairment
MFN21p36.22100%gene with protein product608507Abnormality of color vision; Abnormality of visual evoked potentials; Anosmia; Areflexia; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration/regeneration; Babinski sign; Central scotoma; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Delayed gross motor development; Difficulty walking; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Distal sensory impairment of all modalities; Dysmetric saccades; Flexion contracture; Foot dorsiflexor weakness; Gait disturbance; Hammertoe; Hepatomegaly; Hyporeflexia; Incomplete penetrance; Infantile onset; Insulin resistance; Joint stiffness; Kyphosis; Limb muscle weakness; Lumbar hyperlordosis; Multiple lipomas; Onion bulb formation; Optic atrophy; Optic disc pallor; Pain; Paresthesia; Peripheral axonal atrophy; Peripheral axonal neuropathy; Pes cavus; Positive Romberg sign; Proximal muscle weakness; Reduced tendon reflexes; Scoliosis; Slow decrease in visual acuity; Slow progression; Steppage gait; Tinnitus; Variable expressivity; Vocal cord paresis
MIPEP13q12.1299.93%gene with protein product602241Autosomal recessive inheritance; Failure to thrive; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hyperalaninemia; Hypertonia; Hypertrophic cardiomyopathy; Increased serum lactate; Infantile onset; Lactic acidosis; Left ventricular noncompaction; Seizures
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
MMAA4q31.21100%gene with protein product607481Anemia; Autosomal recessive inheritance; Coma; Decreased adenosylcobalamin; Decreased methylmalonyl-CoA mutase activity; Dehydration; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Infantile onset; Ketonuria; Ketosis; Lethargy; Metabolic acidosis; Methylmalonic acidemia; Methylmalonic aciduria; Neutropenia; Pancytopenia; Respiratory distress; Seizures; Thrombocytopenia; Tremor; Vomiting
MMACHC1p34.1100%gene with protein product609831Abnormality of extrapyramidal motor function; Anorexia; Autosomal recessive inheritance; Cerebral cortical atrophy; Confusion; Cystathioninemia; Cystathioninuria; Decreased adenosylcobalamin; Decreased methionine synthase activity; Decreased methylcobalamin; Decreased methylmalonyl-CoA mutase activity; Dementia; Failure to thrive; Fatigue; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hematuria; Hemolytic-uremic syndrome; High forehead; Homocystinuria; Hydrocephalus; Hyperhomocystinemia; Hypomethioninemia; Infantile onset; Intellectual disability; Lethargy; Long face; Low-set ears; Macrotia; Megaloblastic anemia; Megaloblastic bone marrow; Metabolic acidosis; Methylmalonic acidemia; Methylmalonic aciduria; Microcephaly; Nephropathy; Neutropenia; Nystagmus; Pallor; Pigmentary retinopathy; Proteinuria; Reduced visual acuity; Renal insufficiency; Retinopathy; Seizures; Smooth philtrum; Thrombocytopenia; Thromboembolism; Tremor; Visual impairment
MMADHC2q23.299.96%gene with protein product611935C2orf25Anorexia; Autosomal recessive inheritance; Behavioral abnormality; Cerebral cortical atrophy; Decreased adenosylcobalamin; Decreased methionine synthase activity; Decreased methylcobalamin; Decreased methylmalonyl-CoA mutase activity; Dystonia; Failure to thrive; Fatigue; Gait disturbance; Generalized hypotonia; Global developmental delay; Homocystinuria; Hyperhomocystinemia; Hypomethioninemia; Increased mean corpuscular volume; Infantile onset; Intellectual disability; Lethargy; Megaloblastic anemia; Megaloblastic bone marrow; Methylmalonic acidemia; Methylmalonic aciduria; Nystagmus; Pallor; Seizures; Spastic ataxia
MMP216q12.2100%gene with protein product120360CLG4, CLG4AAbnormality of the ear; Abnormality of the thorax; Ankle contracture; Ankylosis of feet small joints; Antinuclear antibody positivity; Arthralgia; Autosomal recessive inheritance; Brachycephaly; Broad metatarsal; Bulbous nose; C1-C2 subluxation; Camptodactyly of toe; Carpal osteolysis; Coarse facial features; Delayed closure of the anterior fontanelle; Delayed eruption of teeth; Distal tapering of metatarsals; Frontal bossing; Gait disturbance; Gingival overgrowth; Hip contracture; Hirsutism; Hypermelanotic macule; Hypertelorism; Hypoplasia of the maxilla; Infantile onset; Interphalangeal joint contracture of finger; Interphalangeal joint erosions; Juvenile onset; Kyphoscoliosis; Metacarpal osteolysis; Metaphyseal widening; Metatarsal osteolysis; Micrognathia; Narrow nasal bridge; Osteolysis involving tarsal bones; Osteopenia; Osteoporosis; Peripheral opacification of the cornea; Pes cavus; Pes planus; Proptosis; Protrusio acetabuli; Sclerotic cranial sutures; Short stature; Split hand; Subcutaneous nodule; Thickened skin; Thin metacarpal cortices; Thin metatarsal cortices; Vertebral compression fractures; Widened metacarpal shaft; Wrist flexion contractureHeterotaxy
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
MPZ1q23.3100%gene with protein product159440CMT1, CMT1BAbnormality of the cranial nerves; Abnormality of the eye; Abnormality of the immune system; Abnormality of the respiratory system; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration/regeneration; Cold-induced muscle cramps; Congenital onset; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysphagia; Foot dorsiflexor weakness; Gait ataxia; Gait disturbance; Generalized hypotonia; Hammertoe; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Increased CSF protein; Infantile onset; Insidious onset; Juvenile onset; Kyphoscoliosis; Motor delay; Myelin outfoldings; Neonatal hypotonia; Onion bulb formation; Peripheral demyelination; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Progressive sensorineural hearing impairment; Segmental peripheral demyelination/remyelination; Sensorineural hearing impairment; Sensory ataxia; Slow progression; Split hand; Steppage gait; Tonic pupil; Ulnar claw; Upper limb muscle weakness; Upper limb postural tremor; Variable expressivity
MRPL442q36.1100%gene with protein product611849Autosomal recessive inheritance; Elevated hepatic transaminases; Hypertrophic cardiomyopathy; Increased serum lactate; Infantile onset; Microvesicular hepatic steatosis; Variable expressivity
MTOR1p36.22100%gene with protein product601231FRAP, FRAP2, FRAP1Adult onset; Astrocytosis; Autosomal dominant inheritance; Cafe-au-lait spot; Cognitive impairment; Cortical dysplasia; Curly hair; Deep palmar crease; Deep plantar creases; Depressed nasal bridge; Downslanted palpebral fissures; Focal seizures with impairment of consciousness or awareness; Focal white matter lesions; Frontal bossing; Generalized hypotonia; Hemiparesis; High forehead; Hypertelorism; Hypoglycemia; IgA deficiency; Infantile onset; Intellectual disability; Long philtrum; Macrocephaly; Midface retrusion; Perisylvian polymicrogyria; Rhizomelia; Seizures; Short chin; Short nose; Short proximal phalanx of finger; Smooth philtrum; Somatic mutation; Sporadic; Thin upper lip vermilion; Thrombocytopenia; Wide anterior fontanel; Wide mouthAplastic Anemia ; Bone Marrow Failure Syndromes
MTR1q43100%gene with protein product156570Autosomal recessive inheritance; Cerebral atrophy; Decreased methionine synthase activity; Decreased methylcobalamin; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Homocystinuria; Hyperhomocystinemia; Hypomethioninemia; Infantile onset; Intellectual disability; Megaloblastic anemia; Poor coordination; Seizures
MTRR5p15.31100%gene with protein product602568Anemia; Autosomal recessive inheritance; Cerebral atrophy; Cerebral cortical atrophy; Decreased methionine synthase activity; Decreased methylcobalamin; Decreased nerve conduction velocity; Failure to thrive; Gait disturbance; Generalized hypotonia; Global developmental delay; Homocystinuria; Hyperhomocystinemia; Hypomethioninemia; Infantile onset; Intellectual disability, progressive; Lethargy; Megaloblastic anemia; Muscular hypotonia; Nystagmus; Respiratory insufficiency; Seizures
MUSK9q31.3100%gene with protein product601296Abnormality of abdomen morphology; Abnormality of pelvic girdle bone morphology; Absent palmar crease; Absent septum pellucidum; Akinesia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Blepharophimosis; Camptodactyly of finger; Cavum septum pellucidum; Cerebellar hypoplasia; Cleft palate; Cryptorchidism; Cystic hygroma; Depressed nasal bridge; Depressed nasal tip; Easy fatigability; Elbow ankylosis; Excessive daytime somnolence; Facial palsy; Fetal akinesia sequence; Generalized amyotrophy; Gowers sign; High, narrow palate; Hydrocephalus; Hypertelorism; Hypokinesia; Infantile onset; Intrauterine growth retardation; Long philtrum; Micrognathia; Multiple joint contractures; Muscular hypotonia; Narrow mouth; Neck muscle weakness; Neonatal hypotonia; Ophthalmoplegia; Polyhydramnios; Posteriorly rotated ears; Premature birth; Proptosis; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Rocker bottom foot; Scoliosis; Short neck; Short palpebral fissure; Short umbilical cord; Slender long bone; Small for gestational age; Small placenta; Talipes equinovarus; Telecanthus; Thin ribs; Thoracic hypoplasia; Ulnar deviation of the hand
MYH714q11.2100%gene with protein product160760CMH1, MPD1Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system; Amyotrophy of ankle musculature; Arrhythmia; Asymmetric septal hypertrophy; Atrial fibrillation; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Calf muscle pseudohypertrophy; Centrally nucleated skeletal muscle fibers; Chest pain; Childhood onset; Congenital onset; Congestive heart failure; Decreased fetal movement; Dilated cardiomyopathy; Distal muscle weakness; Dysphagia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Failure to thrive; Fatigue; Feeding difficulties; Gait disturbance; Generalized limb muscle atrophy; Generalized muscle weakness; Heterogeneous; High palate; Hypertrophic cardiomyopathy; Imperforate tricuspid valve; Infantile onset; Long face; Lumbar hyperlordosis; Mildly elevated creatine phosphokinase; Myalgia; Narrow face; Neck muscle weakness; Neonatal hypotonia; Onset; Patent ductus arteriosus; Pes cavus; Phenotypic variability; Premature birth; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Reduced vital capacity; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Right bundle branch block; Scapular winging; Scapuloperoneal amyotrophy; Scapuloperoneal myopathy; Scapuloperoneal weakness; Scoliosis; Slow progression; Subvalvular aortic stenosis; Sudden death; Toe extensor amyotrophy; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Waddling gait; Weak cry; Weakness of facial musculature; Weakness of long finger extensor muscles
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
NAGA22q13.2100%gene with protein product104170Abnormal pyramidal signs; Abnormality of brainstem morphology; Abnormality of extrapyramidal motor function; Abnormality of the eye; Adult onset; Aminoaciduria; Angiokeratoma corporis diffusum; Autism; Autosomal recessive inheritance; Axonal degeneration; Cardiomegaly; Cataract; Cerebral atrophy; Coarse facial features; Cognitive impairment; Cortical visual impairment; Depressed nasal bridge; Developmental regression; Distal muscle weakness; Distal sensory impairment; Distal sensory impairment of all modalities; Dry skin; Generalized amyotrophy; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemiplegia/hemiparesis; Hepatomegaly; Hyperkeratosis; Hyperreflexia; Hypertrophic cardiomyopathy; Increased urinary O-linked sialopeptides; Infantile onset; Intellectual disability; Intellectual disability, mild; Intellectual disability, severe; Lip telangiectasia; Lymphedema; Muscle weakness; Muscular hypotonia; Myoclonus; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Osteopenia; Papule; Peripheral axonal neuropathy; Peripheral neuropathy; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus; Subcutaneous nodule; Telangiectasia of the oral mucosa; Telangiectasia of the skin; Thick lower lip vermilion; Thick vermilion border; Tinnitus; Vertigo; White mater abnormalities in the posterior periventricular region
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
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
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
NDUFAF68q22.1100%gene with protein product612392C8orf38Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFS311p11.2100%gene with protein product603846Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS45q11.2100%gene with protein product602694Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Acute necrotizing encephalopathy; Ataxia; Autosomal recessive inheritance; Babinski sign; Blindness; Cerebellar atrophy; Cerebral edema; CNS demyelination; Coma; Developmental regression; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hepatic failure; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoglycemia; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Lethargy; Leukodystrophy; Mitochondrial inheritance; Muscle weakness; Nystagmus; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Phenotypic variability; Pigmentary retinopathy; Progressive; Progressive macrocephaly; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Spasticity; Strabismus; Vomiting; X-linked dominant inheritance
NDUFS719p13.3100%gene with protein product601825Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NDUFS811q13.2100%gene with protein product602141Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Dysarthria; Dystonia; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
NEB2q23.387.76%gene with protein product161650NEM2Abnormality of the eye; Abnormality of the rib cage; Apnea; Areflexia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bulbar palsy; Cleft palate; Congenital contracture; Decreased fetal movement; Dysphagia; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Feeding difficulties; Frequent falls; Generalized muscle weakness; Heterogeneous; High palate; Hyperlordosis; Hyporeflexia; Infantile onset; Late-onset distal muscle weakness; Limb muscle weakness; Low-set ears; Mildly elevated creatine phosphokinase; Motor delay; Myopathic facies; Neck flexor weakness; Nemaline bodies; Neonatal hypotonia; Polyhydramnios; Proximal muscle weakness; Respiratory insufficiency due to muscle weakness; Scoliosis; Slender build; Spinal rigidity; Type 1 muscle fiber predominance; Waddling gaitRhabdomyolysis
NFKBIA14q13.2100%gene with protein productFormer name= IKBA164008NFKBIAnhidrosis; Anhidrotic ectodermal dysplasia; Aplasia of the sweat glands; Autosomal dominant inheritance; Concave nasal ridge; Conical tooth; Frontal bossing; Heat intolerance; Hypodontia; Hypohidrosis; Infantile onset; Recurrent infection of the gastrointestinal tract; Recurrent respiratory infections; Sparse hairAutoimmune Disorders ; Ectodermal Dysplasia
NGF1p13.2100%gene with protein product162030NGFBAcral ulceration and osteomyelitis leading to autoamputation of digits; Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet); Autosomal recessive inheritance; Infantile onset; Pain insensitivity; Painless fractures due to injury; Self-mutilation
NLRP1219q13.42100%gene with protein product609648NALP12Abdominal pain; Arthralgia; Autosomal dominant inheritance; Elevated C-reactive protein level; Episodic fever; Headache; Infantile onset; Myalgia; Phenotypic variability; Recurrent aphthous stomatitis; Sensorineural hearing impairment; Skin rash; Urticaria
NLRP31q44100%gene with protein product606416C1orf7, CIAS1Abdominal pain; Abnormal thrombocyte morphology; Abnormality of neutrophils; Abnormality of the skin; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Broad foot; Conjunctivitis; Cranial nerve paralysis; Delayed closure of the anterior fontanelle; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Episcleritis; Episodic fever; Erythema; Fatigue; Fever; Frontal bossing; Growth delay; Headache; Hearing impairment; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Infantile onset; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Papule; Progressive sensorineural hearing impairment; Proptosis; Pruritus; Pseudopapilledema; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Sensorineural hearing impairment; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisPrimary Immunodeficiency
NLRP31q44100%gene with protein product606416C1orf7, CIAS1Abdominal pain; Abnormal thrombocyte morphology; Abnormality of neutrophils; Abnormality of the skin; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Broad foot; Conjunctivitis; Cranial nerve paralysis; Delayed closure of the anterior fontanelle; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Episcleritis; Episodic fever; Erythema; Fatigue; Fever; Frontal bossing; Growth delay; Headache; Hearing impairment; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Infantile onset; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Papule; Progressive sensorineural hearing impairment; Proptosis; Pruritus; Pseudopapilledema; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Sensorineural hearing impairment; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisPrimary Immunodeficiency
NR3C24q3199.95%gene with protein product600983MLRAutosomal dominant inheritance; Decreased circulating aldosterone level; Decreased circulating renin level; Dehydration; Diarrhea; Failure to thrive; Feeding difficulties; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hypertension; Hyponatremia; Hypotension; Increased circulating renin level; Infantile onset; Maternal hypertension; Metabolic acidosis; Phenotypic variability; Pseudohypoaldosteronism; Vomiting
NTRK11q23.1100%gene with protein product191315Acral ulceration and osteomyelitis leading to autoamputation of digits; Anhidrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Corneal scarring; Corneal ulceration; Decreased number of small peripheral myelinated nerve fibers; Dysautonomia; Emotional lability; Episodic fever; Global developmental delay; Hyperactivity; Hypotrichosis of the scalp; Impaired pain sensation; Infantile onset; Intellectual disability; Irritability; Keratitis; Medullary thyroid carcinoma; Nail dysplasia; Nail dystrophy; Neuropathic arthropathy; Opacification of the corneal stroma; Osteomyelitis; Pain insensitivity; Postural hypotension with compensatory tachycardia; Recurrent corneal erosions; Self-injurious behavior; Self-mutilation; Skin ulcerPalmoplantar keratoderma plus congenital ichthyosis
OPHN1Xq1299.97%gene with protein product300127MRX60Attention deficit hyperactivity disorder; Autism; Cerebellar hypoplasia; Cryptorchidism; Deeply set eye; Delayed speech and language development; Disorganization of the anterior cerebellar vermis; Dysmetria; Enlarged cisterna magna; Frontal bossing; Gait ataxia; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypotelorism; Infantile onset; Intellectual disability; Long face; Long nose; Macrocephaly; Macrotia; Mandibular prognathia; Micropenis; Microphallus; Muscular hypotonia; Neurological speech impairment; Nystagmus; Prominent forehead; Prominent supraorbital ridges; Retrocerebellar cyst; Scrotal hypoplasia; Seizures; Short philtrum; Spasticity; Strabismus; Thin upper lip vermilion; X-linked recessive inheritanceDisorders of Sex Development
PARN16p13.1299.86%gene with protein product604212Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of skin pigmentation; Abnormality of the fingernails; Abnormality of the pharynx; Adult onset; Alopecia; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Bronchiectasis; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral cortical atrophy; Clubbing of fingers; Cough; Dermal atrophy; Esophageal stenosis; Excessive wrinkled skin; Exertional dyspnea; Failure to thrive; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Incomplete penetrance; Infantile onset; Intellectual disability; Intrauterine growth retardation; Malabsorption; Microcephaly; Nail dystrophy; Oral leukoplakia; Periodontitis; Premature graying of hair; Pulmonary fibrosis; Rales; Recurrent fractures; Recurrent respiratory infections; Reticular pattern on pulmonary HRCT; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; Variable expressivity; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes
PAX210q24.31100%gene with protein product167409Abnormality of the foot; Arnold-Chiari type I malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Chorioretinal atrophy; Congenital onset; Focal segmental glomerulosclerosis; Gliosis; Hyperextensible skin; Hypertelorism; Hypertension; Incomplete penetrance; Infantile onset; Intellectual disability; Joint laxity; Low-set ears; Microphthalmia; Morning glory anomaly; Multicystic kidney dysplasia; Myopia; Nephrotic syndrome; Oligohydramnios; Optic nerve coloboma; Optic nerve dysplasia; Orbital cyst; Phenotypic variability; Potter facies; Primary amenorrhea; Proteinuria; Pulmonary hypoplasia; Renal agenesis; Renal dysplasia; Renal hypoplasia; Renal insufficiency; Retinal coloboma; Retrognathia; Seizures; Sensorineural hearing impairment; Soft skin; Stage 5 chronic kidney disease; Talipes equinovarus; Vaginal atresia; Variable expressivity; Vesicoureteral reflux; Visual impairmentCongenital Kidney and Urinary Tract (CKUT) Anomalies; Nephrotic Syndrome
PCDH1510q21.199.84%gene with protein product605514USH1F, DFNB23Abnormal cochlea morphology; Abnormal electroretinogram; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Cataract; Congenital sensorineural hearing impairment; Global developmental delay; Hearing impairment; Hemianopia; High hypermetropia; Infantile onset; Intellectual disability; Iris hypopigmentation; Motor delay; Nyctalopia; Rod-cone dystrophy; Schizophrenia; Scotoma; Sensorineural hearing impairment; Vestibular dysfunction; Vestibular hypofunction; Visual loss
PCDH19Xq22.199.99%gene with protein product300460EFMRAbsence seizures; Aggressive behavior; Ataxia; Atonic seizures; Cutaneous photosensitivity; EEG abnormality; Febrile seizures; Focal clonic seizures; Focal seizures; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Infantile onset; Intellectual disability; Muscular hypotonia; Neurodevelopmental delay; Obtundation status; Pschomotor retardation; Psychosis; Status epilepticus; Tremor; X-linked inheritance
PCK120q13.31100%gene with protein product614168Apnea; Autosomal recessive inheritance; Cerebral atrophy; Cyanosis; EEG abnormality; Global developmental delay; Hepatic failure; Hepatic steatosis; Hypoglycemia; Impaired gluconeogenesis; Infantile onset; Optic atrophy; Renal steatosis; Seizures
PDE10A6q2798.98%gene with protein product610652Abnormality of the striatum; Autosomal dominant inheritance; Autosomal recessive inheritance; Chorea; Drooling; Dysarthria; Dyskinesia; Frequent falls; Hyperkinesis; Infantile onset; Intellectual disability; Mental deterioration; Motor delay; Muscular hypotonia of the trunk; Nonprogressive; Orofacial dyskinesia; Parkinsonism; Seizures; Unsteady gait
PDHA1Xp22.1299.65%gene with protein product300502PDHAAbnormality of eye movement; Agenesis of corpus callosum; Anteverted nares; Apneic episodes precipitated by illness, fatigue, stress; Basal ganglia cysts; Cerebral atrophy; Choreoathetosis; Chronic lactic acidosis; Decreased activity of the pyruvate dehydrogenase complex; Dystonia; Episodic ataxia; Flared nostrils; Frontal bossing; Generalized hypotonia; Global developmental delay; Hyperalaninemia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lethargy; Long philtrum; Microcephaly; Phenotypic variability; Ptosis; Seizures; Severe lactic acidosis; Small for gestational age; Ventriculomegaly; Wide nasal bridge; X-linked dominant inheritance
PDP18q22.1100%gene with protein product605993PPM2CAutosomal recessive inheritance; Decreased activity of the pyruvate dehydrogenase complex; Dysphagia; Gait ataxia; Generalized hypotonia; Global developmental delay; Infantile onset; Intellectual disability; Lactic acidosis; Nystagmus; Seizures
PGAP317q21.2100%gene with protein product611801PERLD1Autosomal recessive inheritance; Broad nasal tip; Bruxism; Elevated alkaline phosphatase; Generalized hypotonia; Global developmental delay; Hypertelorism; Inability to walk; Infantile onset; Intellectual disability; Involuntary movements; Microcephaly; Seizures; Tented upper lip vermilion; Thin upper lip vermilion; Upslanted palpebral fissure; Wide nasal bridge
PHKG216p11.2100%gene with protein product172471Autosomal recessive inheritance; Bile duct proliferation; Cirrhosis; Elevated hepatic transaminases; Fasting hypoglycemia; Generalized hypotonia; Growth delay; Hepatomegaly; Hypertriglyceridemia; Infantile onset; Ketosis; Lactic acidosis; Motor delay; Splenomegaly
PIGT20q13.12100%gene with protein product610272Abdominal pain; Abnormality of the dentition; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Cerebellar hypoplasia; Cerebral atrophy; Deep philtrum; Delayed skeletal maturation; Depressed nasal bridge; Diarrhea; Downturned corners of mouth; Dyspnea; EEG abnormality; Fatigue; Generalized hypotonia; Global developmental delay; Headache; Hemolytic anemia; High forehead; High palate; Hypercalciuria; Hypermetropia; Hypoplasia of the ulna; Infantile onset; Inverted nipples; Large for gestational age; Long philtrum; Macrocephaly; Narrow forehead; Nephrocalcinosis; Nystagmus; Open mouth; Osteopenia; Osteoporosis; Paroxysmal nocturnal hemoglobinuria; Patent ductus arteriosus; Pectus excavatum; Renal cyst; Restrictive cardiomyopathy; Scoliosis; Seizures; Somatic mutation; Strabismus; Ureteral stenosis; Urticaria; Visual impairment
PIK3R15q13.199.16%gene with protein product171833Abnormal pupil morphology; Abnormality of dental enamel; Abnormality of the immune system; Agammaglobulinemia; Alopecia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Birth length less than 3rd percentile; Cataract; Chronic otitis media; Clinodactyly; Conjunctivitis; Cough; Decreased antibody level in blood; Deeply set eye; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Dental malocclusion; Diabetes mellitus; Diarrhea; Dimple chin; Downturned corners of mouth; Enlarged epiphyses; Excessive wrinkled skin; Failure to thrive; Fatigue; Fever; Frontal bossing; Glaucoma; Glucose intolerance; Hyperglycemia; Hypodontia; Hypoplasia of the iris; Hypotrichosis; Immunodeficiency; Infantile onset; Inguinal hernia; Insulin resistance; Insulin-resistant diabetes mellitus; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Lipoatrophy; Lipodystrophy; Macrotia; Megalocornea; Microdontia; Micrognathia; Midface retrusion; Myopia; Neurological speech impairment; Neutropenia; Osteomyelitis; Poor appetite; Premature skin wrinkling; Prominent forehead; Radial deviation of finger; Recurrent bacterial infections; Recurrent respiratory infections; Recurrent skin infections; Rieger anomaly; Sensorineural hearing impairment; Severe short stature; Sinusitis; Skin rash; Small for gestational age; Telecanthus; Thin skin; Triangular face; Underdeveloped nasal alae; Weight loss; Wide nasal bridgeAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
PINK11p36.12100%gene with protein product608309PARK6Anxiety; Autosomal recessive inheritance; Bradykinesia; Dementia; Depressivity; Dystonia; Hyperreflexia; Infantile onset; Parkinsonism; Postural instability; Resting tremor; Rigidity; Slow progression; Urinary urgency
PLA2G622q13.1100%gene with protein product603604Abnormal pyramidal signs; Abnormality of metabolism/homeostasis; Abnormality of visual evoked potentials; Aggressive behavior; Ataxia; Autosomal recessive inheritance; Babinski sign; Bradykinesia; Cachexia; Cerebellar atrophy; Cerebral atrophy; Childhood onset; Chorea; Clumsiness; Delayed speech and language development; Depressivity; Developmental regression; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Elevated serum creatine phosphokinase; EMG: chronic denervation signs; Emotional lability; Feeding difficulties; Frontal bossing; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized hypotonia; Generalized muscle weakness; Gliosis; Global brain atrophy; Global developmental delay; Hearing impairment; Hyperactivity; Hyperreflexia; Impaired smooth pursuit; Impulsivity; Infantile onset; Intellectual disability; Intention tremor; Mental deterioration; Micrognathia; Morphological abnormality of the pyramidal tract; Muscular hypotonia; Neurodegeneration; Neurofibrillary tangles; Neuronal loss in central nervous system; Nystagmus; Optic atrophy; Parkinsonism; Personality changes; Phenotypic variability; Postural instability; Progressive; Prominent forehead; Rapidly progressive; Rigidity; Seizures; Short attention span; Short nose; Spastic tetraplegia; Spasticity; Strabismus; Supranuclear gaze palsy; Talipes calcaneovalgus; Tremor; Unsteady gait; Visual impairment; Visual loss
PLCG216q24.199.99%gene with protein product600220Allergic rhinitis; Arthralgia; Autosomal dominant inheritance; Bronchiolitis; Cellulitis; Erythema; Hashimoto thyroiditis; IgA deficiency; IgM deficiency; Immune dysregulation; Infantile onset; Interstitial pneumonitis; Recurrent infections; Urticaria; VitiligoAutoimmune Disorders ; Inflammatory Bowel Disease
PLEKHG219q13.299.99%gene with protein product611893Autosomal recessive inheritance; Diffuse white matter abnormalities; Infantile onset; Intellectual disability, severe; Leukodystrophy; Postnatal microcephaly
PLG6q26100%gene with protein product173350Abnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the larynx; Abnormality of the skin; Abnormality of vision; Autosomal recessive inheritance; Blindness; Cerebellar hypoplasia; Chronic irritative conjunctivitis; Conjunctivitis; Dandy-Walker malformation; Decreased level of plasminogen; Duodenal ulcer; Epiphora; Gastrointestinal inflammation; Gingival overgrowth; Gingivitis; Global developmental delay; Hydrocephalus; Infantile onset; Keratoconjunctivitis; Macrocephaly; Nephrolithiasis; Periodontitis; Poor wound healing; Premature loss of teeth; Recurrent bronchitis; Recurrent otitis media; Recurrent pharyngitis; Recurrent pneumonia; Recurrent upper respiratory tract infections; Stomatitis
PLP1Xq22.299.97%gene with protein product300401SPG2, PLPAbnormal pyramidal signs; Abnormality of extrapyramidal motor function; Ataxia; Babinski sign; Bowel incontinence; Cerebral dysmyelination; Choreoathetosis; Degeneration of the lateral corticospinal tracts; Delayed speech and language development; Dysarthria; Dysmetria; Dysphagia; Dystonia; Failure to thrive; Flexion contracture; Generalized hypotonia; Global developmental delay; Head titubation; Hyperreflexia; Infantile onset; Intellectual disability; Juvenile onset; Lower limb muscle weakness; Lower limb spasticity; Microcephaly; Muscle weakness; Muscular hypotonia; Nystagmus; Optic atrophy; Pes cavus; Phenotypic variability; Progressive spastic quadriplegia; Psychomotor deterioration; Reduction of oligodendroglia; Rotary nystagmus; Scanning speech; Short stature; Skeletal muscle atrophy; Slow progression; Spastic gait; Spastic paraparesis; Spastic paraplegia; Spastic/hyperactive bladder; Spinocerebellar tract degeneration; Sudanophilic leukodystrophy; Tremor; X-linked recessive inheritance
PMP2217p12100%gene with protein product601097Abnormality of the immune system; Acute demyelinating polyneuropathy; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Childhood onset; Cold-induced muscle cramps; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Foot dorsiflexor weakness; Gait ataxia; Gait disturbance; Generalized hypotonia; Hammertoe; Hearing impairment; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Increased CSF protein; Infantile onset; Insidious onset; Juvenile onset; Kyphoscoliosis; Motor delay;