XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

If cutting and pasting from another document, please be sure to list EITHER one gene symbol per line OR enter a comma-separated list.


OR

SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

You may also use this search to review average exome sequencing coverage by entering the gene symbol below.

SELECTED GENES FOR YOUR SLICE

What do you want to do?

Place an e-order of this Slice on a specific patient through the GeneDx Portal  
Obtain a Slice ID to order testing with a printed requisition form  
Only email the gene list to myself and/or others at this time  


 
Phenotypes
Heterogeneous

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AAGAB15q23100%gene with protein product614888Abnormality of the skin; Autosomal dominant inheritance; Breast carcinoma; Colon cancer; Heterogeneous; Hodgkin lymphoma; Late onset; Neoplasm of the pancreas; Palmoplantar keratoderma; Renal cell carcinoma; Transitional cell carcinoma of the bladderPalmoplantar keratoderma plus congenital ichthyosis
ABCA316p13.3100%gene with protein product601615ABC3Alveolar proteinosis; Apnea; Autosomal recessive inheritance; Bronchiectasis; Clubbing of fingers; Congenital onset; Cough; Desquamative interstitial pneumonitis; Exertional dyspnea; Failure to thrive; Gastroesophageal reflux; Ground-glass opacification on pulmonary HRCT; Heterogeneous; Honeycomb lung; Pulmonary fibrosis; Rales; Respiratory distress; Respiratory failure; Reticular pattern on pulmonary HRCT; Tachypnea
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
ABCC811p15.1100%gene with protein product600509SUR, HRINSAbnormal heart morphology; Abnormality of fatty-acid metabolism; Abnormality of the ear; Abnormality of the immune system; Abnormality of the pancreatic islet cells; Anteverted nares; Arthrogryposis multiplex congenita; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Coma; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Diarrhea; Downturned corners of mouth; Drowsiness; Elevated hemoglobin A1c; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperreflexia; Hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Insulin resistance; Intellectual disability; Intrauterine growth retardation; Irritability; Ketoacidosis; Ketonuria; Large for gestational age; Late onset; Lethargy; Limb joint contracture; Long philtrum; Microalbuminuria; Microcephaly; Mild global developmental delay; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal hypoglycemia; Neonatal insulin-dependent diabetes mellitus; Pallor; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Progressive neurologic deterioration; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Spasticity; Strabismus; Tachycardia; Transient neonatal diabetes mellitus; Type II diabetes mellitus; Vitamin B1 deficiency; Vomiting; Weight loss
ACTA11q42.13100%gene with protein product102610ACTAAbnormality on pulmonary function testing; Achilles tendon contracture; Areflexia; Arthrogryposis multiplex congenita; Autophagic vacuoles; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Cardiac conduction abnormality; Centrally nucleated skeletal muscle fibers; Congenital onset; Decreased fetal movement; Difficulty climbing stairs; Dilated cardiomyopathy; Distal muscle weakness; Dysphagia; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Foot dorsiflexor weakness; Frequent falls; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Gowers sign; Hamstring contractures; Hand muscle atrophy; Handgrip myotonia; Heterogeneous; High palate; Hip contracture; Hyperlordosis; Hyporeflexia; Increased connective tissue; Increased variability in muscle fiber diameter; Late-onset distal muscle weakness; Limb muscle weakness; Limb-girdle muscular dystrophy; Long face; Lumbar hyperlordosis; Mask-like facies; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Muscle fiber splitting; Muscular hypotonia; Myofibrillar myopathy; Myopathic facies; Myopathy; Narrow face; Neck flexor weakness; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Pectus excavatum; Pes cavus; Phenotypic variability; Pneumonia; Polyhydramnios; Poor head control; Progressive muscle weakness; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Retrognathia; Rimmed vacuoles; Scoliosis; Skeletal muscle atrophy; Slender build; Slow progression; Spinal rigidity; Torticollis; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Waddling gait; Weak cry; Wrist dropRhabdomyolysis
ACTA11q42.13100%gene with protein product102610ACTAAbnormality on pulmonary function testing; Achilles tendon contracture; Areflexia; Arthrogryposis multiplex congenita; Autophagic vacuoles; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Cardiac conduction abnormality; Centrally nucleated skeletal muscle fibers; Congenital onset; Decreased fetal movement; Difficulty climbing stairs; Dilated cardiomyopathy; Distal muscle weakness; Dysphagia; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Foot dorsiflexor weakness; Frequent falls; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Gowers sign; Hamstring contractures; Hand muscle atrophy; Handgrip myotonia; Heterogeneous; High palate; Hip contracture; Hyperlordosis; Hyporeflexia; Increased connective tissue; Increased variability in muscle fiber diameter; Late-onset distal muscle weakness; Limb muscle weakness; Limb-girdle muscular dystrophy; Long face; Lumbar hyperlordosis; Mask-like facies; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Muscle fiber splitting; Muscular hypotonia; Myofibrillar myopathy; Myopathic facies; Myopathy; Narrow face; Neck flexor weakness; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Pectus excavatum; Pes cavus; Phenotypic variability; Pneumonia; Polyhydramnios; Poor head control; Progressive muscle weakness; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Retrognathia; Rimmed vacuoles; Scoliosis; Skeletal muscle atrophy; Slender build; Slow progression; Spinal rigidity; Torticollis; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Waddling gait; Weak cry; Wrist dropRhabdomyolysis
ACVRL112q13.13100%gene with protein product601284ACVRLK1, ORW2Anemia; Autosomal dominant inheritance; Brain abscess; Cavernous hemangioma; Cerebral arteriovenous malformation; Cerebral hemorrhage; Cholecystitis; Choriocapillaris atrophy; Cirrhosis; Clubbing; Conjunctival telangiectasia; Cyanosis; Dyspnea; Epistaxis; Fingerpad telangiectases; Gastrointestinal angiodysplasia; Gastrointestinal arteriovenous malformation; Gastrointestinal telangiectasia; Hematemesis; Hematochezia; Hepatic arteriovenous malformation; Heterogeneous; Hypertension; Ischemic stroke; Lip telangiectasia; Melena; Microcytic anemia; Migraine; Nail bed telangiectasia; Nasal mucosa telangiectasia; Palate telangiectasia; Polycythemia; Portal hypertension; Pulmonary arterial hypertension; Pulmonary arteriovenous malformation; Right-to-left shunt; Seizures; Spinal arteriovenous malformation; Spontaneous hematomas; Spontaneous, recurrent epistaxis; Subarachnoid hemorrhage; Telangiectasia of the skin; Tongue telangiectasia; Transient ischemic attack; Visceral angiomatosis
ADAMTS139q34.2100%gene with protein product604134C9orf8Autosomal recessive inheritance; Confusion; Elevated serum creatinine; Fever; Hemolytic-uremic syndrome; Heterogeneous; Increased blood urea nitrogen; Increased serum lactate; Microangiopathic hemolytic anemia; Microscopic hematuria; Prolonged neonatal jaundice; Proteinuria; Reticulocytosis; Schistocytosis; Thrombocytopenia; TremorHemolytic Anemia
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
AGPAT29q34.3100%gene with protein product603100BSCLAbnormality of skin pigmentation; Acanthosis nigricans; Accelerated skeletal maturation; Acute pancreatitis; Autosomal recessive inheritance; Bone cyst; Broad foot; Cirrhosis; Clitoral hypertrophy; Cystic angiomatosis of bone; Decreased fertility in females; Decreased serum leptin; Diabetes mellitus; Elevated hepatic transaminases; Generalized hirsutism; Generalized muscular appearance from birth; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Heterogeneous; Hirsutism; Hyperhidrosis; Hyperinsulinemia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Insulin resistance; Insulin-resistant diabetes mellitus at puberty; Intellectual disability; Labial hypertrophy; Large hands; Lipoatrophy; Lipodystrophy; Long foot; Macrotia; Mandibular prognathia; Nephrolithiasis; Polycystic ovaries; Polyphagia; Precocious puberty; Prominent supraorbital ridges; Prominent umbilicus; Reduced intrathoracic adipose tissue; Skeletal muscle hypertrophy; Splenomegaly; Tall stature; Triangular face; Umbilical hernia
AHI16q23.399.99%gene with protein product608894Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Apnea; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Biparietal narrowing; Blindness; Cataract; Central apnea; Cerebellar vermis hypoplasia; Conductive hearing impairment; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Highly arched eyebrow; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Long face; Low-set ears; Molar tooth sign on MRI; Motor delay; Muscular hypotonia; Neonatal breathing dysregulation; Nephronophthisis; Nystagmus; Obesity; Oculomotor apraxia; Open mouth; Ophthalmoplegia; Optic atrophy; Photophobia; Pigmentary retinopathy; Progressive night blindness; Ptosis; Retinal dystrophy; Sensorineural hearing impairment; Stage 5 chronic kidney disease; Visual impairment; Wide nasal bridgeHeterotaxy
AKT114q32.3399.98%gene with protein product164730Abnormal form of the vertebral bodies; Abnormal lung lobation; Abnormal subcutaneous fat tissue distribution; Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system; Abnormality of the penis; Adenoma sebaceum; Adult onset; Angioid streaks of the fundus; Arteriovenous malformation; Asymmetry of the thorax; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Bronchogenic cyst; Cachexia; Calvarial hyperostosis; Capillary hemangiomas; Cataract; Cavernous hemangioma; Cognitive impairment; Colonic diverticula; Colorectal polyposis; Conjunctival hamartoma; Decreased muscle mass; Deep venous thrombosis; Depigmentation/hyperpigmentation of skin; Depressed nasal bridge; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Epibulbar dermoid; Epidermal acanthosis; Epidermal nevus; Facial hyperostosis; Fibroadenoma of the breast; Finger syndactyly; Furrowed tongue; Generalized hyperkeratosis; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hemihypertrophy; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; High palate; Hydrocele testis; Hyperkeratosis; Hypertelorism; Hyperthyroidism; Hypertrophy of skin of soles; Hypoplasia of the maxilla; Hypothyroidism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intention tremor; Irregular hyperpigmentation; Kyphoscoliosis; Kyphosis; Lipoma; Long face; Lower limb asymmetry; Lymphangioma; Lymphedema; Macrocephaly; Macrodactyly; Macroglossia; Macrotia; Macule; Mandibular hyperostosis; Melanocytic nevus; Meningioma; Micrognathia; Mucosal telangiectasiae; Multiple cafe-au-lait spots; Multiple lipomas; Myopia; Narrow mouth; Neoplasm of the stomach; Open mouth; Ovarian cyst; Ovarian papillary adenocarcinoma; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Progressive; Progressive macrocephaly; Ptosis; Pulmonary embolism; Renal cell carcinoma; Round face; Scoliosis; Seizures; Skeletal dysplasia; Skin tags; Somatic mutation; Spinal canal stenosis; Spinal cord compression; Splenomegaly; Sporadic; Subcutaneous lipoma; Subcutaneous nodule; Thin bony cortex; Thrombophlebitis; Thyroid adenoma; Thyroiditis; Transitional cell carcinoma of the bladder; Upper limb asymmetry; Uterine leiomyosarcoma; Varicocele; Vascular skin abnormality; Venous malformation; Visceral angiomatosis
ANK24q25-q26100%gene with protein product106410LQT4Atrial fibrillation; Autosomal dominant inheritance; Heterogeneous; Prolonged QT interval; Sinus bradycardia; Sudden cardiac death; SyncopeNephrotic Syndrome ; Palmoplantar keratoderma plus congenital ichthyosis
APC5q22.2100%gene with protein productPromoter/regulatory variants are not captured by XomeDxSlice. Please see our oncology genetics test menu for additional options: https://www.genedx.com/test-catalog/medical-specialty/oncology/611731Abdominal pain; Abnormality of retinal pigmentation; Abnormality of the abdominal wall; Abnormality of the metacarpal bones; Abnormality of the musculature; Absent fingernail; Absent toenail; Adenomatous colonic polyposis; Adrenocortical carcinoma; Astrocytoma; Autosomal dominant inheritance; Colon cancer; Desmoid tumors; Downslanted palpebral fissures; Epidermoid cyst; Finger syndactyly; Frontal bossing; Hepatocellular carcinoma; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; Hyperpigmentation of the skin; Hypertelorism; Hypoplasia of the radius; Hypoplasia of the ulna; Increased level of L-fucose in urine; Intestinal polyposis; Keloids; Malabsorption; Micronodular cirrhosis; Multiple gastric polyps; Multiple lipomas; Myalgia; Neoplasm of the stomach; Odontoma; Radioulnar synostosis; Renal cell carcinoma; Short thumb; Small intestine carcinoid; Somatic mutation; Stomach cancer; Subacute progressive viral hepatitis; Subcutaneous nodule; Synostosis of carpal bones; Toe syndactyly; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Variable expressivity
APOPT114q32.33100%gene with protein product616003C14orf153Abnormal pyramidal signs; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Delayed speech and language development; Developmental regression; Diffuse hepatic steatosis; Excessive daytime somnolence; Exercise intolerance; Exertional dyspnea; Failure to thrive; Fatigable weakness of swallowing muscles; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Progressive leukoencephalopathy; Progressive peripheral neuropathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Skeletal muscle steatosis
APP21q21.3100%gene with protein product104760AD1Abnormal social behavior; Agitation; Alzheimer disease; Autosomal dominant inheritance; Behavioral abnormality; Cerebellar hemorrhage; Cerebral amyloid angiopathy; Cerebral calcification; Cerebral cortical atrophy; Cerebral hemorrhage; Cerebral ischemia; Coma; Confusion; Decreased level of GABA in serum; Dementia; Deposits immunoreactive to beta-amyloid protein; Disinhibition; Dysphagia; Febrile seizures; Gait disturbance; Global developmental delay; Hallucinations; Headache; Heterogeneous; Hypertonia; Intellectual disability; Language impairment; Long-tract signs; Memory impairment; Migraine; Myoclonus; Neurofibrillary tangles; Paresthesia; Parkinsonism; Recurrent cerebral hemorrhage; Seizures; Sensory impairment; Stroke; Tortuous cerebral arteriesObesity
AQP212q13.12100%gene with protein product107777Anorexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Constipation; Failure to thrive; Feeding difficulties in infancy; Fever; Heterogeneous; Hypernatremia; Hypernatremic dehydration; Hypertonic dehydration; Hyposthenuria; Intellectual disability; Irritability; Megacystis; Nausea and vomiting; Neonatal onset; Nephrogenic diabetes insipidus; Polydipsia; Polyuria; Seizures; Short stature; Unexplained fevers; Vomiting
ATL114q22.1100%gene with protein product606439SPG3, SPG3AAdult onset; Autoamputation; Autosomal dominant inheritance; Babinski sign; Degeneration of the lateral corticospinal tracts; Distal amyotrophy; Distal lower limb amyotrophy; Distal sensory impairment; Distal sensory loss of all modalities; Heterogeneous; Hyperreflexia; Impaired vibration sensation in the lower limbs; Incomplete penetrance; Insidious onset; Lower limb muscle weakness; Motor delay; Nail dysplasia; Nail dystrophy; Paraplegia; Paresthesia; Peripheral axonal neuropathy; Pes cavus; Progressive; Scoliosis; Spastic gait; Spastic paraplegia; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency; Variable expressivity
ATP1A21q23.2100%gene with protein product182340MHP2Abnormality of movement; Aphasia; Apraxia; Ataxia; Autosomal dominant inheritance; Blurred vision; Choreoathetosis; Coma; Confusion; Diplopia; Drowsiness; Dysarthria; Dysphasia; Dystonia; Episodic ataxia; Episodic hemiplegia; Episodic quadriplegia; Fever; Generalized tonic-clonic seizures; Hemiparesis; Hemiplegia; Hemiplegia/hemiparesis; Heterogeneous; Incomplete penetrance; Intellectual disability; Mental deterioration; Migraine with aura; Nystagmus; Seizures; Transient unilateral blurring of vision; Vertigo
AVPR2Xq28100%gene with protein product300538DIR3, DIRAnorexia; Constipation; Decreased circulating renin level; Diabetes insipidus; Elevated systolic blood pressure; Failure to thrive; Feeding difficulties in infancy; Fever; Heterogeneous; Hypernatremia; Hypernatremic dehydration; Hypernatriuria; Hypertonic dehydration; Hyponatremia; Hyposthenuria; Intellectual disability; Irritability; Megacystis; Nausea and vomiting; Neonatal onset; Nephrogenic diabetes insipidus; Polydipsia; Polyuria; Seizures; Short stature; Unexplained fevers; Vomiting; X-linked recessive inheritance
AXIN116p13.3100%gene with protein product603816Autosomal dominant inheritance; Hepatocellular carcinoma; Heterogeneous; Micronodular cirrhosis; Somatic mutation; Subacute progressive viral hepatitis; Ureteral duplication; Uterus didelphys
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
BRAF7q3499.88%gene with protein product164757Abnormal aortic valve morphology; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal hypothalamus morphology; Abnormal mitral valve morphology; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormal visual field test; Abnormality of coagulation; Abnormality of the pulmonary artery; Abnormality of the spleen; Abnormality of the ulna; Abnormality of vision; Absent eyebrow; Absent eyelashes; Alveolar cell carcinoma; Amegakaryocytic thrombocytopenia; Anterior creases of earlobe; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the eyebrow; Arrhythmia; Atopic dermatitis; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Bitemporal hemianopia; Brachydactyly; Brittle hair; Bronchogenic cyst; Bulbous nose; Bundle branch block; Cavernous hemangioma; Central adrenal insufficiency; Central diabetes insipidus; Cerebral calcification; Cerebral cortical atrophy; Clinodactyly; Clinodactyly of the 5th finger; Coarctation of aorta; Coarse facial features; Coarse hair; Cognitive impairment; Congenital onset; Constipation; Cryptorchidism; Cubitus valgus; Curly hair; Cystic hygroma; Decreased fertility; Deep palmar crease; Deep philtrum; Delayed skeletal maturation; Dental malocclusion; Depressed nasal bridge; Dolichocephaly; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphagia; Dystrophic fingernails; EEG abnormality; Enlarged pituitary gland; Enlarged thorax; Epicanthus; Excessive daytime somnolence; Excessive wrinkled skin; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Freckling; Frontal bossing; Full cheeks; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypotonia; Global developmental delay; Growth delay; Headache; Hearing impairment; Hepatomegaly; Heterogeneous; High forehead; High palate; High, narrow palate; Hydrocephalus; Hydronephrosis; Hyperextensibility of the finger joints; Hyperextensible skin; Hyperkeratosis; Hypertelorism; Hypertonia; Hypertrophic cardiomyopathy; Hypogonadotrophic hypogonadism; Hypomelanotic macule; Hypoplasia of the frontal lobes; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Intracranial cystic lesion; Intrauterine growth retardation; Joint hyperflexibility; Kyphoscoliosis; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Macrotia; Male infertility; Melanocytic nevus; Micrognathia; Midface retrusion; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple palmar creases; Multiple plantar creases; Muscle weakness; Muscular hypotonia; Myopia; Narrow forehead; Nausea and vomiting; Neonatal hypotonia; Neoplasm of the anterior pituitary; Neurofibrosarcoma; Numerous nevi; Nystagmus; Obesity; Oculomotor apraxia; Open bite; Open mouth; Optic nerve dysplasia; Osteolysis; Osteopenia; Palmoplantar keratoderma; Papilledema; Papule; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pectus excavatum of inferior sternum; Pituitary hypothyroidism; Polyhydramnios; Poor suck; Posteriorly rotated ears; Postnatal growth retardation; Premature birth; Progressive visual field defects; Progressive visual loss; Prolactin excess; Prominent forehead; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonic stenosis; Radial deviation of finger; Reduced factor XII activity; Reduced factor XIII activity; Relative macrocephaly; Scapular winging; Scoliosis; Seizures; Sensorineural hearing impairment; Severe sensorineural hearing impairment; Shield chest; Short neck; Short nose; Short stature; Skin nodule; Slow decrease in visual acuity; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Splenomegaly; Sprengel anomaly; Strabismus; Submucous cleft hard palate; Superior pectus carinatum; Synovitis; Tetralogy of Fallot; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Tongue thrusting; Triangular face; Underdeveloped supraorbital ridges; Ventricular septal defect; Vomiting; Webbed neck; Wide intermamillary distance; Wide nasal bridge
BRCA117q21.31100%gene with protein product113705FANCSAbdominal distention; Abdominal pain; Abnormality of the fallopian tube; Anorexia; Autosomal dominant inheritance; Back pain; Breast carcinoma; Chronic fatigue; Constipation; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Functional intestinal obstruction; Heterogeneous; Intestinal pseudo-obstruction; Jaundice; Lymphadenopathy; Nausea and vomiting; Neoplasm; Ovarian neoplasm; Pancreatic adenocarcinoma; Peritonitis; Poor appetite; Primary peritoneal carcinoma; Weight loss
BRCA213q13.199.99%gene with protein product600185FANCD1, FACD, FANCDAbdominal pain; Abnormality of chromosome stability; Abnormality of the fallopian tube; Almond-shaped palpebral fissure; Anorexia; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Autosomal recessive inheritance; Back pain; Bone marrow hypocellularity; Breast carcinoma; Chromosomal breakage induced by crosslinking agents; Chronic fatigue; Esophageal atresia; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Functional intestinal obstruction; Global developmental delay; Heterogeneous; Hypopigmented skin patches; Intellectual disability; Intestinal pseudo-obstruction; Irregular hyperpigmentation; Jaundice; Leukopenia; Lymphadenopathy; Microcephaly; Nephroblastoma; Ovarian neoplasm; Pancreatic adenocarcinoma; Poor appetite; Primary peritoneal carcinoma; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Somatic mutation; Thrombocytopenia; Tracheoesophageal fistula; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
BRIP117q23.2100%gene with protein product605882FANCJAbnormality of chromosome stability; Abnormality of the fallopian tube; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Breast carcinoma; Chromosomal breakage induced by crosslinking agents; Esophageal atresia; Global developmental delay; Heterogeneous; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukopenia; Microcephaly; Ovarian neoplasm; Postnatal growth retardation; Primary peritoneal carcinoma; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
BSCL211q12.3100%gene with protein product606158GNG3LG, SPG17Abnormal pyramidal signs; Abnormality of skin pigmentation; Acanthosis nigricans; Accelerated skeletal maturation; Acute pancreatitis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bone cyst; Brisk reflexes; Broad foot; Cerebral atrophy; Cirrhosis; Clitoral hypertrophy; Coarse facial features; Cold-induced hand cramps; Congenital onset; Cystic angiomatosis of bone; Decreased fertility; Decreased fertility in females; Decreased serum leptin; Delayed speech and language development; Developmental regression; Diabetes mellitus; Distal amyotrophy; Distal muscle weakness; Dystonia; Elevated hepatic transaminases; Encephalopathy; First dorsal interossei muscle atrophy; First dorsal interossei muscle weakness; Generalized hirsutism; Generalized lipodystrophy; Generalized muscular appearance from birth; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Heterogeneous; High pitched voice; Hirsutism; Hyperactivity; Hyperhidrosis; Hyperinsulinemia; Hyperreflexia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Impaired vibration sensation in the lower limbs; Insulin resistance; Insulin-resistant diabetes mellitus at puberty; Intellectual disability; Intellectual disability, mild; Labial hypertrophy; Large hands; Lipoatrophy; Lipodystrophy; Long foot; Loss of speech; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Mandibular prognathia; Mental deterioration; Myoclonus; Nephrolithiasis; Neuronal loss in central nervous system; Onset; Pes cavus; Polycystic ovaries; Polyphagia; Poor motor coordination; Precocious puberty; Progressive; Progressive encephalopathy; Progressive psychomotor deterioration; Prominent supraorbital ridges; Prominent umbilicus; Reduced intraabdominal adipose tissue; Reduced intrathoracic adipose tissue; Reduced subcutaneous adipose tissue; Seizures; Skeletal muscle hypertrophy; Sleep disturbance; Slow progression; Spastic gait; Spastic paraplegia; Spasticity; Splenomegaly; Tall stature; Tetraparesis; Thenar muscle atrophy; Thenar muscle weakness; Tremor; Triangular face; Umbilical hernia; Upper limb muscle weakness
BSND1p32.3100%gene with protein product606412DFNB73Autosomal recessive inheritance; Congenital onset; Decreased glomerular filtration rate; Edema; Failure to thrive; Fetal polyuria; Generalized hypotonia; Global glomerulosclerosis; Heterogeneous; Hydrops fetalis; Hyperaldosteronism; Hyperchloriduria; Hypernatriuria; Hypochloremia; Hypokalemia; Hypokalemic hypochloremic metabolic alkalosis; Hyponatremia; Hyporeflexia; Increased urinary potassium; Intellectual disability; Motor delay; Polyhydramnios; Polyuria; Premature birth; Reduced renal corticomedullary differentiation; Renal insufficiency; Renal salt wasting; Sensorineural hearing impairment; Tubulointerstitial fibrosis
CACNA1A19p13.13100%gene with protein productPlease note that some forms of ataxia are associated with a repeat expansion in the CACNA1A gene which may not be detected by XomeDxSlice.601011CACNL1A4, SCA6, MHP1, MHPAbnormal vestibulo-ocular reflex; Abnormality of movement; Agitation; Anxiety; Ataxia; Athetosis; Auditory hallucinations; Autosomal dominant inheritance; Cerebellar atrophy; Cerebellar vermis atrophy; Coma; Confusion; Diplopia; Downbeat nystagmus; Drowsiness; Dysarthria; Dyscalculia; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Epileptic encephalopathy; Episodic ataxia; Esotropia; Fever; Flexion contracture; Gaze-evoked nystagmus; Generalized hypotonia; Genetic anticipation; Global developmental delay; Hemiparesis; Hemiplegia; Hemiplegia/hemiparesis; Heterogeneous; Hyperreflexia; Hypertonia; Impaired smooth pursuit; Incomplete penetrance; Migraine; Migraine with aura; Muscle weakness; Myotonia; Nystagmus; Paresthesia; Progressive; Progressive cerebellar ataxia; Psychosis; Saccadic smooth pursuit; Seizures; Sensory neuropathy; Tinnitus; Transient unilateral blurring of vision; Tremor; Vertigo; Vestibular dysfunction; Visual hallucinations
CACNA1FXp11.2399.91%gene with protein product300110CSNB2, AIEDAbnormal electroretinogram; Abnormal light- and dark-adapted electroretinogram; Abnormality of color vision; Abnormality of macular pigmentation; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Albinism; Astigmatism; Central scotoma; Cone/cone-rod dystrophy; Congenital stationary night blindness; Difficulty adjusting from light to dark; Heterogeneous; High myopia; Hypopigmentation of the fundus; Hypoplasia of the fovea; Myopia; Nyctalopia; Nystagmus; Optic disc hypoplasia; Photophobia; Reduced visual acuity; Severe visual impairment; Visual impairment; X-linked inheritance; X-linked recessive inheritance
CASP82q33.1100%gene with protein product601763Asthma; Autosomal dominant inheritance; Autosomal recessive inheritance; Chronic diarrhea; Decreased T cell activation; Defective B cell activation; Eczema; Failure to thrive; Hepatocellular carcinoma; Heterogeneous; Lymphadenopathy; Micronodular cirrhosis; Pneumonia; Recurrent sinopulmonary infections; Short stature; Somatic mutation; Splenomegaly; Subacute progressive viral hepatitisAutoimmune Disorders
CAV33p25.3100%gene with protein product601253Abnormality of metabolism/homeostasis; Adult onset; Arrhythmia; Asymmetric septal hypertrophy; Autosomal dominant inheritance; Autosomal recessive inheritance; Calf muscle hypertrophy; Childhood onset; Congestive heart failure; Elevated serum creatine phosphokinase; EMG abnormality; Exercise-induced muscle cramps; Exercise-induced muscle stiffness; Exercise-induced myalgia; Gowers sign; Heterogeneous; Muscle cramps; Muscle hyperirritability; Muscle mounding; Muscular dystrophy; Myalgia; Percussion-induced rapid rolling muscle contractions; Pes cavus; Prolonged QT interval; Skeletal muscle hypertrophy; Subvalvular aortic stenosis; Sudden death; Ventricular arrhythmia
CAV33p25.3100%gene with protein product601253Abnormality of metabolism/homeostasis; Adult onset; Arrhythmia; Asymmetric septal hypertrophy; Autosomal dominant inheritance; Autosomal recessive inheritance; Calf muscle hypertrophy; Childhood onset; Congestive heart failure; Elevated serum creatine phosphokinase; EMG abnormality; Exercise-induced muscle cramps; Exercise-induced muscle stiffness; Exercise-induced myalgia; Gowers sign; Heterogeneous; Muscle cramps; Muscle hyperirritability; Muscle mounding; Muscular dystrophy; Myalgia; Percussion-induced rapid rolling muscle contractions; Pes cavus; Prolonged QT interval; Skeletal muscle hypertrophy; Subvalvular aortic stenosis; Sudden death; Ventricular arrhythmia
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
CCM27p1399.85%gene with protein product607929C7orf22Autosomal dominant inheritance; Cerebral hemorrhage; Focal T2 hyperintense brainstem lesion; Focal T2 hypointense brainstem lesion; Headache; Heterogeneous; Increased intracranial pressure; Meningioma; Neuroma; Scoliosis; Seizures; Stroke; Telangiectasia
CENPJ13q12.12-q12100%gene with protein product609279MCPH611 pairs of ribs; Abnormal cortical bone morphology; Abnormality of dental enamel; Absent earlobe; Agenesis of corpus callosum; Autosomal recessive inheritance; Cachexia; Clinodactyly of the 5th finger; Cognitive impairment; Cone-shaped epiphysis; Congenital onset; Convex nasal ridge; Craniosynostosis; Decreased body weight; Delayed skeletal maturation; Downslanted palpebral fissures; Glaucoma; Global developmental delay; Heterogeneous; Heterotopia; High forehead; Hip dysplasia; Hyperreflexia; Hypoplasia of the frontal lobes; Intellectual disability; Intellectual disability, moderate; Intellectual disability, severe; Intrauterine growth retardation; Joint hyperflexibility; Low-set ears; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Pachygyria; Prematurely aged appearance; Reduced number of teeth; Retrognathia; Sandal gap; Short stature; Sloping forehead; Small cerebral cortex; Sparse scalp hair; Steep acetabular roof; Thin upper lip vermilion; Underdeveloped nasal alae; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
CFTR7q31.299.41%gene with protein product602421CF, ABCC7Abdominal pain; Abnormal enzyme/coenzyme activity; Absent vas deferens; Asthma; Autosomal recessive inheritance; Azoospermia; Biliary cirrhosis; Bronchiectasis; Chronic lung disease; Cor pulmonale; Decreased antibody level in blood; Decreased testicular size; Elevated C-reactive protein level; Elevated sweat chloride; Exocrine pancreatic insufficiency; Failure to thrive; Heterogeneous; Hypercalciuria; Immunodeficiency; Increased circulating gonadotropin level; Leukocytosis; Malabsorption; Male infertility; Meconium ileus; Non-obstructive azoospermia; Obstructive azoospermia; Pulmonary fibrosis; Rectal prolapse; Recurrent bronchopulmonary infections; Recurrent pancreatitis; Recurrent pneumonia; Recurrent respiratory infectionsMale Infertility
CHAT10q11.2399.99%gene with protein product118490Abnormality of the immune system; Apneic episodes precipitated by illness, fatigue, stress; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bulbar palsy; Congenital onset; Decreased miniature endplate potentials; Dysphagia; EMG: decremental response of compound muscle action potential to repetitive nerve stimulation; Fatigable weakness; Generalized hypotonia due to defect at the neuromuscular junction; Heterogeneous; Ophthalmoparesis; Poor suck; Ptosis; Respiratory distress; Respiratory insufficiency due to muscle weakness; Strabismus; Sudden episodic apnea; Type 2 muscle fiber atrophy; Weak cry
CHRNA28p21.2100%gene with protein product118502Autosomal dominant inheritance; Behavioral abnormality; Heterogeneous; Seizures
CLCN716p13.3100%gene with protein product602727Abnormal blistering of the skin; Abnormality of epiphysis morphology; Abnormality of hair texture; Abnormality of pelvic girdle bone morphology; Abnormality of temperature regulation; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the vertebral endplates; Abnormality of visual evoked potentials; Anemia; Arthritis; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Chronic rhinitis; Craniosynostosis; Delayed eruption of teeth; Elevated serum acid phosphatase; Facial palsy; Facial paralysis; Fractures of the long bones; Frontal bossing; Generalized osteosclerosis; Genu valgum; Growth delay; Hearing impairment; Hepatomegaly; Hepatosplenomegaly; Heterogeneous; Hip osteoarthritis; Hydrocephalus; Joint dislocation; Juvenile onset; Lymphadenopathy; Macrocephaly; Mandibular osteomyelitis; Narrow chest; Nystagmus; Opsoclonus; Optic atrophy; Optic nerve compression; Osteoarthritis; Osteopetrosis; Otitis media; Pallor; Premature loss of primary teeth; Recurrent fractures; Recurrent respiratory infections; Reduced bone mineral density; Reticulocytosis; Short distal phalanx of finger; Short stature; Splenomegaly; Tremor; Visual impairment; Visual loss
CLCNKA1p36.1399.96%gene with protein product602024Congenital onset; Decreased glomerular filtration rate; Edema; Failure to thrive; Fetal polyuria; Generalized hypotonia; Heterogeneous; Hyperaldosteronism; Hyperchloriduria; Hypernatriuria; Hypochloremia; Hypokalemia; Hypokalemic hypochloremic metabolic alkalosis; Hyponatremia; Hyporeflexia; Increased urinary potassium; Intellectual disability; Motor delay; Polyhydramnios; Polyuria; Premature birth; Renal insufficiency; Renal salt wasting; Sensorineural hearing impairment
CLCNKB1p36.1399.98%gene with protein product602023Abnormal choroid morphology; Abnormal sclera morphology; Abnormality of the retinal vasculature; Autosomal recessive inheritance; Congenital onset; Decreased glomerular filtration rate; Dehydration; Edema; Failure to thrive; Fetal polyuria; Generalized hypotonia; Generalized muscle weakness; Heterogeneous; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperchloriduria; Hypernatriuria; Hypochloremia; Hypokalemia; Hypokalemic hypochloremic metabolic alkalosis; Hypokalemic metabolic alkalosis; Hyponatremia; Hyporeflexia; Hypotension; Impaired reabsorption of chloride; Increased circulating renin level; Increased urinary potassium; Intellectual disability; Motor delay; Polyhydramnios; Polyuria; Premature birth; Renal insufficiency; Renal potassium wasting; Renal salt wasting; Sensorineural hearing impairment
COA52q11.2100%gene with protein product613920C2orf64Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Congenital onset; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COA71p32.3100%gene with protein product615623C1orf163, SELRC1Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COL17A110q25.1100%gene with protein product113811BPAG2Abnormal blistering of the skin; Abnormality of skin pigmentation; Adermatoglyphia; Anemia; Anonychia; Aplasia cutis congenita; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Camptodactyly of finger; Carious teeth; Corneal erosion; Epiphora; Fragile nails; Heterogeneous; Hypodontia; Milia; Nail dysplasia; Nail dystrophy; Oral mucosal blisters; Pain; Palmar hyperhidrosis; Palmoplantar hyperhidrosis; Photophobia; Plantar hyperkeratosis; Scarring alopecia of scalp; Sparse body hair; Visual impairment
COL4A32q36.3100%gene with protein product120070Anterior lenticonus; Anterior polar cataract; Autosomal dominant inheritance; Autosomal recessive inheritance; Azotemia; Cataract; Corneal erosion; Diffuse glomerular basement membrane lamellation; Glomerulonephritis; Hearing impairment; Hematuria; Heterogeneous; Hypertension; Hypophosphatemia; Lenticonus; Myopia; Nephritis; Nephrocalcinosis; Nephrotic syndrome; Nonprogressive; Progressive; Proteinuria; Sensorineural hearing impairment; Stage 5 chronic kidney disease; Thickening of the glomerular basement membrane; Thin glomerular basement membraneNephrotic Syndrome
COL4A42q36.399.84%gene with protein product120131Anterior lenticonus; Autosomal recessive inheritance; Cataract; Corneal erosion; Diffuse glomerular basement membrane lamellation; Hearing impairment; Hematuria; Heterogeneous; Hypertension; Myopia; Nephritis; Nephrotic syndrome; Progressive; Proteinuria; Stage 5 chronic kidney disease; Thickening of the glomerular basement membraneNephrotic Syndrome
COL4A5Xq22.399.93%gene with protein product303630ASLN, ATSAnterior lenticonus; Congenital cataract; Corneal erosion; Diffuse glomerular basement membrane lamellation; Diffuse leiomyomatosis; Heterogeneous; Hypertension; Hypoparathyroidism; Ichthyosis; Microscopic hematuria; Myopia; Nephritis; Nephrotic syndrome; Progressive; Proteinuria; Sensorineural hearing impairment; Stage 5 chronic kidney disease; Thickening of the glomerular basement membrane; Thrombocytopenia; X-linked dominant inheritanceNephrotic Syndrome
COL9A21p34.2100%gene with protein product120260EDM2Abnormality of epiphysis morphology; Amblyopia; Arthralgia; Astigmatism; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Childhood onset; Cleft palate; Epiphyseal dysplasia; Flat face; Flattened epiphysis; Gait disturbance; Genu valgum; Genu varum; Heterogeneous; High myopia; Hip dysplasia; Irregular epiphyses; Irregular vertebral endplates; Joint hyperflexibility; Knee osteoarthritis; Limitation of joint mobility; Malar flattening; Micrognathia; Micromelia; Mild short stature; Myopia; Osteoarthritis; Platyspondyly; Retinal detachment; Sensorineural hearing impairment; Short palm; Short stature; Small epiphyses; Vitreoretinal degeneration; Waddling gait
COL9A320q13.3399.98%gene with protein product120270Abnormality of epiphysis morphology; Abnormality of the hip joint; Amblyopia; Arthralgia; Astigmatism; Autosomal dominant inheritance; Cataract; Cleft palate; Delayed epiphyseal ossification; Epiphyseal dysplasia; Flat face; Gait disturbance; Genu valgum; Heterogeneous; Hip dysplasia; Irregular epiphyses; Irregular vertebral endplates; Joint hyperflexibility; Limitation of joint mobility; Malar flattening; Micrognathia; Micromelia; Mild short stature; Mildly elevated creatine phosphokinase; Myopia; Osteoarthritis; Platyspondyly; Proximal muscle weakness; Retinal detachment; Sensorineural hearing impairment; Short metacarpal; Short stature; Small epiphyses; Vitreoretinal degeneration
COMP19p13.11100%gene with protein product600310PSACH, EDM1, EPD1Abnormality of epiphysis morphology; Abnormality of the hip bone; Abnormality of the metaphysis; Arthralgia; Atlantoaxial dislocation; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Beaking of vertebral bodies; Brachydactyly; Broad femoral neck; Carpal bone hypoplasia; Cervical cord compression; Childhood onset short-limb short stature; Delayed epiphyseal ossification; Delayed skeletal maturation; Disproportionate short-limb short stature; Epiphyseal dysplasia; Flared femoral metaphysis; Fragmented epiphyses; Fragmented, irregular epiphyses; Gait disturbance; Generalized joint laxity; Genu recurvatum; Genu valgum; Genu varum; Hamartomatous polyposis; Heterogeneous; Hip dysplasia; Hip osteoarthritis; Hyperlordosis; Hypoplasia of the odontoid process; Intestinal polyposis; Irregular carpal bones; Irregular epiphyses; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphosis; Limitation of joint mobility; Limited elbow extension; Limited hip extension; Limited hip movement; Lumbar hyperlordosis; Micromelia; Mild short stature; Osteoarthritis; Ovoid vertebral bodies; Platyspondyly; Radial metaphyseal irregularity; Scoliosis; Sensory neuropathy; Severe short stature; Short distal phalanx of finger; Short femoral neck; Short foot; Short long bone; Short metacarpal; Short palm; Short phalanx of finger; Small epiphyses; Small epiphyses of the phalanges of the hand; Spatulate ribs; Ulnar deviation of the hand; Ulnar deviation of the wrist; Ulnar metaphyseal irregularity; Waddling gait
COX1017p12100%gene with protein product602125Abnormal pattern of respiration; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; CNS demyelination; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Glycosuria; Hepatocellular necrosis; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory failure; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
COX1017p12100%gene with protein product602125Abnormal pattern of respiration; Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; CNS demyelination; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Dysarthria; Dystonia; Emotional lability; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Glycosuria; Hepatocellular necrosis; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hyperreflexia; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory failure; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
COX1412q13.12100%gene with protein product614478C12orf62Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COX1510q24.294.3%gene with protein product603646Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; CNS demyelination; Decreased fetal movement; Dysarthria; Dystonia; Emotional lability; Encephalopathy; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatic steatosis; Hepatocellular necrosis; Heterogeneous; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lactic acidosis; Microcephaly; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Spasticity; Strabismus
COX201q44100%gene with protein product614698FAM36AAminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
COX6B119q13.12100%gene with protein product124089COX6BAminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
CREBBP16p13.399.97%gene with protein product600140RSTSAbnormal cornea morphology; Abnormal number of teeth; Abnormality of refraction; Abnormality of the cervical spine; Abnormality of the kidney; Abnormality of the pinna; Aganglionic megacolon; Agenesis of corpus callosum; Agoraphobia; Arrhythmia; Atrial septal defect; Autism; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Bifid uterus; Bimanual synkinesia; Broad hallux; Broad thumb; Cafe-au-lait spot; Capillary hemangiomas; Cataract; Chorioretinal dystrophy; Clinodactyly of the 5th finger; Coloboma; Constipation; Convex nasal ridge; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Dental malocclusion; Deviated nasal septum; Dislocated radial head; Downslanted palpebral fissures; Duane anomaly; Duplication of phalanx of hallux; EEG abnormality; Epicanthus; Facial grimacing; Failure to thrive; Feeding difficulties in infancy; Flared iliac wings; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Glaucoma; Hearing impairment; Heterogeneous; High axial triradius; High palate; Highly arched eyebrow; Hirsutism; Hyperactivity; Hyperreflexia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplastic iliac wing; Hypospadias; Impulsivity; Intellectual disability; Joint hypermobility; Joint laxity; Keloids; Large foramen magnum; Laryngomalacia; Long eyelashes; Low anterior hairline; Low hanging columella; Low posterior hairline; Low-set ears; Microcephaly; Micrognathia; Muscular hypotonia; Narrow mouth; Narrow palate; Nasolacrimal duct obstruction; Obstructive sleep apnea; Papillary cystadenoma of the epididymis; Parietal foramina; Patellar dislocation; Patent ductus arteriosus; Pectus excavatum; Pes planus; Phonophobia; Plantar crease between first and second toes; Polydactyly; Polyhydramnios; Poor coordination; Postnatal growth retardation; Premature thelarche; Prominent fingertip pads; Proptosis; Ptosis; Radial deviation of thumb terminal phalanx; Recurrent upper respiratory tract infections; Respiratory distress; Retrognathia; Scoliosis; Seizures; Self-mutilation; Shawl scrotum; Short attention span; Short stature; Single transverse palmar crease; Spina bifida occulta; Sporadic; Stereotypy; Syndactyly; Talon cusp; Tethered cord; Thick eyebrow; Truncal obesity; Unsteady gait; Variable expressivity; Vascular ring; Ventricular septal defect; Wide anterior fontanel; Wide nasal bridgeDisorders of Sex Development; Obesity
CRELD13p25.3100%gene with protein product607170AVSD2Atrioventricular canal defect; Autosomal dominant inheritance; Dextrocardia; Heterogeneous; Incomplete penetrance; Pulmonary artery atresia; Right aortic arch with mirror image branchingHeterotaxy
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
CTSC11q14.2100%gene with protein product602365PLS, PALSAbnormality of the fingernails; Abnormality of the skin; Arachnodactyly; Atrophy of alveolar ridges; Autosomal recessive inheritance; Cerebral calcification; Choroid plexus calcification; Chronic furunculosis; Congenital palmoplantar keratosis; Gingival recession; Gingivitis; Heterogeneous; Nail dystrophy; Osteolytic defects of the phalanges of the hand; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Pes planus; Premature loss of primary teeth; Premature loss of teeth; Pustule; Recurrent bacterial skin infections; Recurrent cutaneous abscess formation; Recurrent respiratory infections; Reduced number of teeth; Severe periodontitis; Tapering pointed ends of distal finger phalanges; Thick nailPalmoplantar keratoderma plus congenital ichthyosis
CYP1B12p22.2100%gene with protein product601771GLC3AAnterior synechiae of the anterior chamber; Autosomal recessive inheritance; Buphthalmos; Central opacification of the cornea; Congenital glaucoma; Corneal neovascularization; Corneal opacity; Glaucoma; Heterogeneous; Increased intraocular pressure; Late onset congenital glaucoma; Nevus flammeus; Peters anomaly; Posterior synechiae of the anterior chamber; Primary congenital glaucoma; Retinal detachment; Subcapsular cataract; Thinning of Descemet membrane
DHH12q13.12100%gene with protein product605423Abnormal peripheral myelination; Abnormality of female external genitalia; Abnormality of peripheral nerve conduction; Abnormality of the epididymis; Abnormality of the vagina; Autosomal recessive inheritance; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum testosterone level; Distal muscle weakness; Distal sensory loss of all modalities; Gonadal dysgenesis; Gonadal dysgenesis with female appearance, male; Gonadal dysgenesis, male; Gonadoblastoma; Heterogeneous; Hypogonadotrophic hypogonadism; Hypoplasia of the fallopian tube; Hypoplasia of the uterus; Increased circulating gonadotropin level; Infertility; Male hypogonadism; Male pseudohermaphroditism; Polycystic ovaries; Polyneuropathy; Primary amenorrhea; Reduced tendon reflexes; Sensorimotor neuropathy; Sensory ataxic neuropathy; Sex reversal; Skeletal muscle atrophy; Streak ovary; Testicular dysgenesisDisorders of Sex Development
DISC21q42.1RNA, long non-codingXomeDxSlice is not appropriate.606271Autosomal dominant inheritance; Delusions; Hallucinations; Heterogeneous; Schizophrenia; Social and occupational deterioration
DNAI19p13.3100%gene with protein product604366Abnormal cornea morphology; Abnormal respiratory motile cilium morphology; Absent frontal sinuses; Anosmia; Asplenia; Autosomal recessive inheritance; Bronchiectasis; Chronic otitis media; Chronic rhinitis; Chronic sinusitis; Ciliary dyskinesia; Communicating hydrocephalus; Conductive hearing impairment; Headache; Heterogeneous; Immotile cilia; Male infertility; Nasal polyposis; Pneumonia; Recurrent respiratory infections; Sinusitis; Situs inversus totalisHeterotaxy
DNM219p13.2100%gene with protein product602378Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration; Centrally nucleated skeletal muscle fibers; Congenital contracture; Congenital onset; Death in infancy; Decreased fetal movement; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Easy fatigability; Elevated serum creatine phosphokinase; External ophthalmoplegia; Facial palsy; Flexion contracture; Generalized hypotonia; Heterogeneous; Hyporeflexia; Juvenile onset; Motor delay; Onion bulb formation; Pes cavus; Polyhydramnios; Proximal muscle weakness; Ptosis; Respiratory insufficiency; Retinal hemorrhage; Segmental peripheral demyelination/remyelination; Sleepy facial expression; Slow progression; Small for gestational age; Thin ribs
DSG218q12.199.99%gene with protein product125671Autosomal dominant inheritance; Dilated cardiomyopathy; Heterogeneous; Palpitations; Right ventricular cardiomyopathy; Sudden cardiac death; Ventricular extrasystoles; Ventricular tachycardiaPalmoplantar keratoderma plus congenital ichthyosis
DSP6p24.3100%gene with protein product125647Abnormality of the cardiovascular system; Abnormality of the hair; Abnormality of the nail; Acantholysis; Alopecia; Alopecia universalis; Anonychia; Aplasia cutis congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bronchiectasis; Clubbing of fingers; Congenital bullous ichthyosiform erythroderma; Congestive heart failure; Cough; Dilated cardiomyopathy; Exertional dyspnea; Failure to thrive; Fragile skin; Gastroesophageal reflux; Gingival recession; Ground-glass opacification on pulmonary HRCT; Heterogeneous; Honeycomb lung; Mitten deformity; Nail dysplasia; Nail dystrophy; Natal tooth; Neonatal death; Oral mucosal blisters; Palmoplantar keratoderma; Palmoplantar keratosis with erythema and scale; Parakeratosis; Patchy palmoplantar keratoderma; Phimosis; Pulmonary fibrosis; Rales; Reduced number of teeth; Reticular pattern on pulmonary HRCT; Right ventricular cardiomyopathy; Sandal gap; Skin erosion; Sparse and thin eyebrow; Sparse eyelashes; Sudden cardiac death; Tapered distal phalanges of finger; Ventricular extrasystoles; Ventricular fibrillation; Ventricular tachycardia; Widely spaced toes; Woolly hairEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
DYSF2p13.2100%gene with protein product603009LGMD2BAdult onset; Autosomal recessive inheritance; Decreased Achilles reflex; Decreased/absent ankle reflexes; Difficulty climbing stairs; Difficulty running; Distal amyotrophy; Distal muscle weakness; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Heterogeneous; Increased connective tissue; Increased variability in muscle fiber diameter; Lower limb muscle weakness; Muscle fiber splitting; Muscle fibrillation; Muscular dystrophy; Proximal muscle weakness; Rapidly progressive; Slow progressionRhabdomyolysis
EDAXq13.199.08%gene with protein product300451ED1, EDA2, ODT1, EDA1Abnormality of oral mucosa; Absent eyebrow; Absent nipple; Anhidrosis; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Brittle hair; Concave nail; Conical tooth; Delayed eruption of teeth; Depressed nasal bridge; Depressed nasal ridge; Dry skin; Dysphonia; Eczema; Everted lower lip vermilion; Everted upper lip vermilion; Fever; Frontal bossing; Heat intolerance; Heterogeneous; Hoarse voice; Hypodontia; Hypohidrosis; Hypohidrotic ectodermal dysplasia; Hypoplasia of the maxilla; Hypoplastic nipples; Hypoplastic-absent sebaceous glands; Hypotrichosis; Microdontia; Micrognathia; Oligodontia; Periorbital hyperpigmentation; Periorbital wrinkles; Prominent supraorbital ridges; Respiratory distress; Short chin; Short nose; Soft skin; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Taurodontia; Thick vermilion border; Thin skin; Underdeveloped nasal alae; X-linked dominant inheritance; X-linked recessive inheritanceEctodermal Dysplasia
EDAR2q13100%gene with protein product604095ED3, DLAbnormal toenail morphology; Abnormality of dental morphology; Abnormality of the fingernails; Alopecia; Anhidrosis; Anodontia; Autosomal dominant inheritance; Autosomal recessive inheritance; Depressed nasal bridge; Dry skin; Ectodermal dysplasia; Everted lower lip vermilion; Everted upper lip vermilion; Fine hair; Frontal bossing; Heat intolerance; Heterogeneous; Hypodontia; Hypohidrosis; Hypohidrotic ectodermal dysplasia; Hypoplasia of teeth; Hypotrichosis; Microdontia; Nail dysplasia; Periorbital hyperpigmentation; Periorbital wrinkles; Premature loss of primary teeth; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Thick vermilion border; Thin skinEctodermal Dysplasia
EDAR2q13100%gene with protein product604095ED3, DLAbnormal toenail morphology; Abnormality of dental morphology; Abnormality of the fingernails; Alopecia; Anhidrosis; Anodontia; Autosomal dominant inheritance; Autosomal recessive inheritance; Depressed nasal bridge; Dry skin; Ectodermal dysplasia; Everted lower lip vermilion; Everted upper lip vermilion; Fine hair; Frontal bossing; Heat intolerance; Heterogeneous; Hypodontia; Hypohidrosis; Hypohidrotic ectodermal dysplasia; Hypoplasia of teeth; Hypotrichosis; Microdontia; Nail dysplasia; Periorbital hyperpigmentation; Periorbital wrinkles; Premature loss of primary teeth; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Thick vermilion border; Thin skinEctodermal Dysplasia
EDARADD1q42.3-q43100%gene with protein product606603Abnormal toenail morphology; Abnormality of dental morphology; Abnormality of the fingernails; Abnormality of the forehead; Alopecia; Anhidrosis; Anodontia; Autosomal dominant inheritance; Autosomal recessive inheritance; Conical tooth; Depressed nasal bridge; Dry skin; Ectodermal dysplasia; Everted lower lip vermilion; Everted upper lip vermilion; Fine hair; Frontal bossing; Heat intolerance; Heterogeneous; Hypodontia; Hypohidrosis; Hypohidrotic ectodermal dysplasia; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic nipples; Hypotrichosis; Microdontia; Micrognathia; Nail dysplasia; Oligodontia; Periorbital hyperpigmentation; Periorbital wrinkles; Premature loss of primary teeth; Recurrent respiratory infections; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Sparse hair; Sparse lateral eyebrow; Sparse scalp hair; Thick vermilion border; Thin skin; XerostomiaEctodermal Dysplasia
EDARADD1q42.3-q43100%gene with protein product606603Abnormal toenail morphology; Abnormality of dental morphology; Abnormality of the fingernails; Abnormality of the forehead; Alopecia; Anhidrosis; Anodontia; Autosomal dominant inheritance; Autosomal recessive inheritance; Conical tooth; Depressed nasal bridge; Dry skin; Ectodermal dysplasia; Everted lower lip vermilion; Everted upper lip vermilion; Fine hair; Frontal bossing; Heat intolerance; Heterogeneous; Hypodontia; Hypohidrosis; Hypohidrotic ectodermal dysplasia; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic nipples; Hypotrichosis; Microdontia; Micrognathia; Nail dysplasia; Oligodontia; Periorbital hyperpigmentation; Periorbital wrinkles; Premature loss of primary teeth; Recurrent respiratory infections; Slow-growing hair; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Sparse hair; Sparse lateral eyebrow; Sparse scalp hair; Thick vermilion border; Thin skin; XerostomiaEctodermal Dysplasia
EDN320q13.32100%gene with protein product131242Abdominal pain; Abnormal macular morphology; Abnormality of temperature regulation; Abnormality of the cardiovascular system; Abnormality of the mouth; Abnormality of vision; Aganglionic megacolon; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue irides; Central hypoventilation; Constipation; Downslanted palpebral fissures; Feeding difficulties; Ganglioneuroblastoma; Ganglioneuroma; Hearing impairment; Heterochromia iridis; Heterogeneous; Hyperhidrosis; Hypopigmented skin patches; Intestinal obstruction; Low-set ears; Nausea and vomiting; Olfactory lobe agenesis; Posteriorly rotated ears; Premature graying of hair; Prominent nasal bridge; Respiratory insufficiency; Sensorineural hearing impairment; Synophrys; Underdeveloped nasal alae; Weight loss; White eyebrow; White eyelashes; White forelock; Wide nasal bridgeWaardenburg Syndrome
EDNRB13q22.3100%gene with protein product131244HSCR2, HSCRAbdominal pain; Abnormal auditory evoked potentials; Abnormal macular morphology; Abnormality of vision; Aganglionic megacolon; Albinism; Ataxia; Autonomic dysregulation; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue irides; Constipation; Global developmental delay; Hearing impairment; Heterochromia iridis; Heterogeneous; Hypopigmentation of the fundus; Hypopigmented skin patches; Intestinal obstruction; Large for gestational age; Leukodystrophy; Muscular hypotonia; Nausea and vomiting; Nystagmus; Olfactory lobe agenesis; Polyneuropathy; Premature graying of hair; Prominent nasal bridge; Sensorineural hearing impairment; Spastic paraparesis; Synophrys; Underdeveloped nasal alae; Weight loss; White eyebrow; White eyelashes; White forelock; Wide nasal bridgeWaardenburg Syndrome
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
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
ELN7q11.2399.99%gene with protein product130160Abdominal pain; Abnormality iris morphology; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the face; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Aortic regurgitation; Arrhythmia; Arthralgia; Ascending aortic dissection; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bicuspid aortic valve; Bladder diverticulum; Blepharophimosis; Blue irides; Bowel diverticulosis; Broad forehead; Broad nasal tip; Cardiomegaly; Cerebral ischemia; Chest pain; Chronic constipation; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Coronary artery atherosclerosis; Coronary artery stenosis; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Dental malocclusion; Depressed nasal bridge; Depressivity; Descending aortic dissection; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Emphysema; Enuresis; Epicanthus; Everted lower lip vermilion; Exertional dyspnea; Failure to thrive in infancy; Feeding difficulties in infancy; Flexion contracture; Full cheeks; Gait imbalance; Gastroesophageal reflux; Generalized hypotonia; Genu valgum; Glucose intolerance; Hallux valgus; Heterogeneous; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Impaired visuospatial constructive cognition; Incoordination; Inguinal hernia; Insomnia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Left ventricular failure; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Medial flaring of the eyebrow; Microcephaly; Microdontia; Micrognathia; Midface retrusion; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Narrow forehead; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Obsessive-compulsive trait; Open bite; Open mouth; Osteopenia; Osteoporosis; Overfriendliness; Paroxysmal dyspnea; Pelvic kidney; Periorbital edema; Periorbital fullness; Peripheral arterial stenosis; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Poor coordination; Premature graying of hair; Premature skin wrinkling; Prematurely aged appearance; Proteinuria; Protruding ear; Pulmonary artery stenosis; Pulmonic stenosis; Rectal prolapse; Recurrent otitis media; Recurrent urinary tract infections; Redundant skin; Renal hypoplasia; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Small nail; Soft skin; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Urethral stenosis; Vesicoureteral reflux; Visual impairment; Wide mouth; Wide nasal bridge
ENAM4q13.399.98%gene with protein product606585AIH2Amelogenesis imperfecta; Anterior open-bite malocclusion; Autosomal dominant inheritance; Autosomal recessive inheritance; Heterogeneous; Hypomineralization of enamel; Yellow-brown discoloration of the teeth
ENG9q34.11100%gene with protein product131195ORW1, ORWAbnormal circle of Willis morphology; Abnormality of brainstem morphology; Anemia; Arteriovenous fistulas of celiac and mesenteric vessels; Atherosclerosis; Autosomal dominant inheritance; Brain abscess; Cavernous hemangioma; Cerebral arteriovenous malformation; Cerebral berry aneurysm; Cerebral hemorrhage; Cholecystitis; Cirrhosis; Clubbing; Conjunctival telangiectasia; Cyanosis; Dilatation of celiac artery; Dilatation of mesenteric artery; Dyspnea; Epistaxis; Fingerpad telangiectases; Gastrointestinal angiodysplasia; Gastrointestinal arteriovenous malformation; Gastrointestinal telangiectasia; Hematemesis; Hematochezia; Hemiparesis; Hepatic arteriovenous malformation; Heterogeneous; High-output congestive heart failure; Hypertension; Ischemic stroke; Lip telangiectasia; Melena; Microcytic anemia; Migraine; Nail bed telangiectasia; Nasal mucosa telangiectasia; Palate telangiectasia; Polycythemia; Portal hypertension; Pulmonary arteriovenous malformation; Right-to-left shunt; Seizures; Spinal arteriovenous malformation; Spontaneous hematomas; Spontaneous, recurrent epistaxis; Subarachnoid hemorrhage; Telangiectasia of the skin; Tongue telangiectasia; Transient ischemic attack; Venous varicosities of celiac and mesenteric vessels; Visceral angiomatosis; Visual field defect
EP30022q13.2100%gene with protein product602700Abnormal cornea morphology; Abnormal number of teeth; Abnormality of refraction; Abnormality of the cervical spine; Abnormality of the kidney; Abnormality of the pinna; Aganglionic megacolon; Agenesis of corpus callosum; Agoraphobia; Arrhythmia; Atrial septal defect; Autism; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Bifid uterus; Bimanual synkinesia; Broad hallux; Broad thumb; Cafe-au-lait spot; Capillary hemangiomas; Carious teeth; Cataract; Chorioretinal dystrophy; Clinodactyly of the 5th finger; Coloboma; Congenital onset; Constipation; Convex nasal ridge; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Delayed gross motor development; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Dental malocclusion; Deviated nasal septum; Dislocated radial head; Downslanted palpebral fissures; Duane anomaly; Duplication of phalanx of hallux; EEG abnormality; Epicanthus; Facial grimacing; Failure to thrive; Feeding difficulties in infancy; Flared iliac wings; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Glaucoma; Global developmental delay; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; High axial triradius; High palate; Highly arched eyebrow; Hirsutism; Hyperactivity; Hyperreflexia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplastic iliac wing; Hypospadias; Impulsivity; Intellectual disability; Intellectual disability, mild; Joint hypermobility; Joint laxity; Keloids; Large foramen magnum; Laryngomalacia; Long eyelashes; Low anterior hairline; Low hanging columella; Low posterior hairline; Low-set ears; Microcephaly; Micrognathia; Muscular hypotonia; Narrow mouth; Narrow palate; Nasolacrimal duct obstruction; Neoplasm of the stomach; Obstructive sleep apnea; Overbite; Papillary cystadenoma of the epididymis; Parietal foramina; Patellar dislocation; Patent ductus arteriosus; Pectus excavatum; Pes planus; Phonophobia; Plantar crease between first and second toes; Polydactyly; Polyhydramnios; Poor coordination; Posterior helix pit; Postnatal growth retardation; Premature thelarche; Prominent fingertip pads; Prominent nose; Proptosis; Ptosis; Radial deviation of thumb terminal phalanx; Recurrent upper respiratory tract infections; Renal cell carcinoma; Respiratory distress; Retrognathia; Scoliosis; Seizures; Self-mutilation; Shawl scrotum; Short attention span; Short stature; Single transverse palmar crease; Spina bifida occulta; Sporadic; Stereotypy; Syndactyly; Talon cusp; Tethered cord; Thick eyebrow; Transitional cell carcinoma of the bladder; Truncal obesity; Unsteady gait; Uterine leiomyosarcoma; Variable expressivity; Vascular ring; Ventricular septal defect; Wide anterior fontanel; Wide nasal bridgeObesity
EPM2A6q24.399.94%gene with protein product607566Abnormality of metabolism/homeostasis; Absence seizures; Apraxia; Autosomal recessive inheritance; Cutaneous photosensitivity; Dementia; Gait disturbance; Generalized myoclonic seizures; Generalized tonic-clonic seizures with focal onset; Hepatic failure; Heterogeneous; Myoclonus; Progressive neurologic deterioration; Psychosis; Rapidly progressive; Simple partial occipital seizures; Visual auras; Visual hallucinations; Visual loss
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
EYA18q13.3100%gene with protein product601653BORAbnormal dermatoglyphics; Abnormality of the antihelix; Abnormality of the cerebrum; Abnormality of the clavicle; Abnormality of the middle ear ossicles; Abnormality of the renal collecting system; Anteverted nares; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Branchial cyst; Branchial fistula; Cholesteatoma; Cleft palate; Cochlear malformation; Conductive hearing impairment; Congenital hip dislocation; Cupped ear; Delayed skeletal maturation; Depressed nasal bridge; Dilatated internal auditory canal; Down-sloping shoulders; Enlarged cochlear aqueduct; Euthyroid goiter; External ear malformation; Full cheeks; Global developmental delay; Gustatory lacrimation; Hearing impairment; Heterogeneous; High palate; Hyperreflexia; Hypertonia; Hypoplasia of the cochlea; Incomplete partition of the cochlea type II; Incomplete penetrance; Intellectual disability; Intellectual disability, mild; Intestinal malrotation; Long face; Long neck; Low-set ears; Macrotia; Microdontia; Microtia; Mixed hearing impairment; Morphological abnormality of the middle ear; Narrow face; Narrow nose; Neurological speech impairment; Overbite; Polycystic kidney dysplasia; Preauricular pit; Preauricular skin tag; Protruding ear; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Renal malrotation; Renal steatosis; Retrognathia; Scapular winging; Sensorineural hearing impairment; Short stature; Stenosis of the external auditory canal; Variable expressivity; Vesicoureteral refluxCongenital Kidney and Urinary Tract (CKUT) Anomalies
FASTKD22q33.399.99%gene with protein product612322KIAA0971Aminoaciduria; Anemia; Ataxia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Decreased liver function; Exercise intolerance; Exertional dyspnea; Failure to thrive; Generalized hypotonia; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperphosphaturia; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased hepatocellular lipid droplets; Increased intramyocellular lipid droplets; Increased serum lactate; Intellectual disability; Lactic acidosis; Mitochondrial inheritance; Motor delay; Optic atrophy; Pigmentary retinopathy; Proteinuria; Ptosis; Renal Fanconi syndrome; Renal tubular dysfunction; Respiratory distress; Respiratory insufficiency due to muscle weakness; Seizures; Sensorineural hearing impairment
FBLN514q32.1299.96%gene with protein product604580Abnormality of the face; Aortic aneurysm; Aortic root aneurysm; Arachnodactyly; Arterial fibromuscular dysplasia; Arterial stenosis; Atelectasis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bladder diverticulum; Bowel diverticulosis; Choroidal neovascularization; Congenital diaphragmatic hernia; Cutis laxa; Delayed cranial suture closure; Distal sensory impairment; Drusen; Emphysema; Full cheeks; Heterogeneous; Hypertelorism; Ileus; Inguinal hernia; Joint hyperflexibility; Joint laxity; Microcephaly; Mitral regurgitation; Oligohydramnios; Overgrowth; Pectus excavatum; Pes cavus; Premature skin wrinkling; Ptosis; Recurrent respiratory infections; Recurrent urinary tract infections; Redundant skin; Renal diverticulum; Scoliosis; Supravalvular aortic stenosis; Umbilical hernia; Vascular tortuosity
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
FGF1413q33.1100%gene with protein product601515Autosomal dominant inheritance; Dysmetric saccades; Head tremor; Heterogeneous; Impaired smooth pursuit; Intellectual disability, mild; Memory impairment; Sensory axonal neuropathy; Slow progression; Strabismus; Truncal ataxia
FGFR18p11.23100%gene with protein product136350FLT2, KAL22-3 toe syndactyly; Abnormal anterior chamber morphology; Abnormal form of the vertebral bodies; Abnormal morphology of the nasolacrimal system; Abnormality of body height; Abnormality of cardiovascular system morphology; Abnormality of the clavicle; Abnormality of the eyelashes; Abnormality of the nasopharynx; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Absent septum pellucidum; Agenesis of corpus callosum; Alopecia; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Arachnoid cyst; Arnold-Chiari malformation; Atrial septal defect; Autosomal dominant inheritance; Bicoronal synostosis; Bimanual synkinesia; Bone cyst; Bowing of the long bones; Brachycephaly; Brachyturricephaly; Breast hypoplasia; Broad foot; Broad hallux; Broad hallux phalanx; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanx; Broad thumb; Bronchomalacia; Calcaneonavicular fusion; Capillary hemangiomas; Cartilaginous trachea; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Choanal atresia; Choanal stenosis; Chordee; Cleft palate; Cleft upper lip; Cloverleaf skull; Corneal opacity; Coronal craniosynostosis; Cortical dysplasia; Craniofacial hyperostosis; Craniosynostosis; Cryptorchidism; Dandy-Walker malformation; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Depressivity; Diabetes insipidus; Downslanted palpebral fissures; Dysphasia; Echolalia; Ectrodactyly; Elbow ankylosis; Encephalocele; Epibulbar dermoid; Epicanthus; Erectile abnormalities; Eunuchoid habitus; Eyelid coloboma; Failure to thrive; Failure to thrive in infancy; Female hypogonadism; Finger syndactyly; Frontal bossing; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hallux varus; Hemiplegia/hemiparesis; Heterogeneous; High forehead; High palate; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hypernatremia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal bone; Hypoplasia of the iris; Hypoplasia of the maxilla; Hypoplasia of the ovary; Hypoplasia of the uterus; Hypoplastic scapulae; Hypoplastic toenails; Hyposmia; Hypospadias; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Incomplete penetrance; Increased female libido; Increased susceptibility to fractures; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Limb undergrowth; Linear hyperpigmentation; Lipodystrophy; Lipoma; Lipomas of the central neryous system; Lobar holoprosencephaly; Long penis; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hemivertebrae; Macrocephaly; Malar flattening; Male hypogonadism; Mandibular prognathia; Meckel diverticulum; Microcephaly; Microdontia; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Multiple lipomas; Multiple unerupted teeth; Muscle stiffness; Mutism; Nasal obstruction; Neonatal hypotonia; Neoplasm of the skeletal system; Nevus flammeus; Non-midline cleft lip; Non-obstructive azoospermia; Nystagmus; Oligodontia; Omphalocele; Osteolysis; Osteopenia; Osteoporosis; Pelvic kidney; Peripheral pulmonary artery stenosis; Platyspondyly; Posteriorly rotated ears; Preauricular skin tag; Primary amenorrhea; Prominent supraorbital ridges; Proptosis; Protruding ear; Pseudoarthrosis; Ptosis; Pulmonary arterial hypertension; Reduced bone mineral density; Reduced number of teeth; Respiratory distress; Respiratory insufficiency; Retinopathy; Rhizomelia; Rigidity; Sclerocornea; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Septo-optic dysplasia; Severe short stature; Shallow orbits; Short foot; Short hallux; Short metacarpal; Short metatarsal; Short middle phalanx of toe; Short neck; Short nose; Short palm; Short phalanx of finger; Short stature; Shortening of all middle phalanges of the fingers; Somatic mosaicism; Sparse body hair; Spasticity; Split hand; Sporadic; Strabismus; Subcortical cerebral atrophy; Subcutaneous lipoma; Subcutaneous nodule; Subvalvular aortic stenosis; Syndactyly; Synophrys; Telecanthus; Toe syndactyly; Tricuspid valve prolapse; Trigonocephaly; Unerupted tooth; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide intermamillary distance; Wide nasal bridge; Wide nose; XanthomatosisDisorders of Sex Development
FKRP19q13.32100%gene with protein product606596Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the cerebral white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Calf muscle hypertrophy; Cataract; Cerebellar atrophy; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Death in childhood; Delayed gross motor development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Feeding difficulties in infancy; Frequent falls; Gait disturbance; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Kyphosis; Left ventricular failure; Left ventricular hypertrophy; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myalgia; Myopathy; Myopia; Neonatal hypotonia; Neurological speech impairment; Nocturnal hypoventilation; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pelvic girdle muscle weakness; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal amyotrophy; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Restrictive deficit on pulmonary function testing; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Thigh hypertrophy; Toe walking; Type II lissencephaly; Variable expressivity; Vertebral fusion; Visual impairment; Waddling gaitMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
FKTN9q31.299.98%gene with protein productJapanese founder variant in the 3' UTR of FKTN would not be detected by this test607440FCMDAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Blindness; Brachycephaly; Buphthalmos; Calf muscle hypertrophy; Camptodactyly of finger; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Encephalocele; Excessive daytime sleepiness; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pyramidal tract; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macrogyria; Mask-like facies; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myocardial fibrosis; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pectus excavatum; Peters anomaly; Phenotypic variability; Plagiocephaly; Polymicrogyria; Posterior fossa cyst; Progressive; Proximal muscle weakness; Pulmonic stenosis; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Transposition of the great arteries; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairment; Weak cryMuscular dystropy-dystroglycanopathy (Walker-Warburg)
FOXC16p25.3100%gene with protein product601090FKHL7, IRID1Abnormal anterior chamber morphology; Abnormal iris vasculature; Abnormality of cardiovascular system morphology; Aniridia; Anterior synechiae of the anterior chamber; Aplasia/Hypoplasia of the iris; Aplasia/Hypoplasia of the macula; Atrial septal defect; Autosomal dominant inheritance; Axenfeld anomaly; Cataract; Central opacification of the cornea; Cerebellar vermis hypoplasia; Concave nasal ridge; Congenital glaucoma; Ectopia pupillae; Everted lower lip vermilion; Glaucoma; Hearing impairment; Heterogeneous; Hypertelorism; Hypodontia; Hypoplasia of the iris; Hypoplastic iris stroma; Malar flattening; Microdontia; Midface retrusion; Nystagmus; Patent ductus arteriosus; Peters anomaly; Posterior embryotoxon; Proptosis; Rieger anomaly; Sensorineural hearing impairment; Subcapsular cataract; Thinning of Descemet membrane; Visual lossCongenital Kidney and Urinary Tract (CKUT) Anomalies
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
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
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
GCK7p13100%gene with protein product138079MODY2Abnormal C-peptide level; Abnormal heart morphology; Abnormality of the ear; Abnormality of the immune system; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Downturned corners of mouth; Failure to thrive; Fasting hyperinsulinemia; Fatigue; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hand tremor; Heterogeneous; Hyperglycemia; Hyperinsulinemic hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Insulin resistance; Intellectual disability; Intrauterine growth retardation; Ketoacidosis; Ketonuria; Late onset; Limb joint contracture; Long philtrum; Maturity-onset diabetes of the young; Microalbuminuria; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal insulin-dependent diabetes mellitus; Peripheral neuropathy; Prominent metopic ridge; Ptosis; Radial deviation of finger; Recurrent hypoglycemia; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Type II diabetes mellitus; Weight loss
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
GDF68q22.1100%gene with protein product601147SGM1Abnormal electroretinogram; Abnormal vertebral segmentation and fusion; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the ribs; Abnormality of the shoulder; Absent testis; Aplasia/Hypoplasia of the cerebellar vermis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral microphthalmos; Cataract; Cervical C2/C3 vertebral fusion; Cervicomedullary schisis; Coloboma; Congenital muscular torticollis; Digenic inheritance; Encephalocele; Facial asymmetry; Hearing impairment; Hemiplegia/hemiparesis; Heterogeneous; Hypoplasia of the fovea; Keratoconus; Limited neck range of motion; Low posterior hairline; Microphthalmia; Muscular hypotonia; Nystagmus; Optic disc hypoplasia; Scoliosis; Seizures; Severe visual impairment; Short neck; Sprengel anomaly; Variable expressivity; Visual impairment; Webbed neck
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
GLUD110q23.2100%gene with protein product138130GLUDAsymptomatic hyperammonemia; Autosomal dominant inheritance; Heterogeneous; Hyperinsulinemic hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Intellectual disability
GPC3Xq26.299.97%gene with protein product300037SDYS2-3 finger syndactyly; Abdominal pain; Abnormal lung lobation; Abnormality of the helix; Abnormality of the ribs; Accelerated skeletal maturation; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Birth length greater than 97th percentile; Broad foot; Broad palm; Broad secondary alveolar ridge; Broad thumb; Broad toe; Bundle branch block; Camptodactyly of finger; Cardiomyopathy; Cerebellar vermis hypoplasia; Cervical ribs; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Death in infancy; Dental malocclusion; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Duplication of renal pelvis; Enlarged kidney; Epicanthus; Finger syndactyly; Flared iliac wings; Generalized hypotonia; Hearing impairment; Hepatomegaly; Heterogeneous; High, narrow palate; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoglycemia; Hypospadias; Increased IgE level; Inguinal hernia; Intestinal malrotation; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Mandibular prognathia; Meckel diverticulum; Multicystic kidney dysplasia; Nail dysplasia; Narrow sacroiliac notch; Nephroblastoma; Neurological speech impairment; Omphalocele; Pancreatic islet-cell hyperplasia; Patent ductus arteriosus; Pectus excavatum; Polyhydramnios; Polysplenia; Postaxial hand polydactyly; Posterior helix pit; Preauricular pit; Preauricular skin tag; Prolonged QT interval; Pulmonic stenosis; Renal cyst; Scoliosis; Short 2nd finger; Short distal phalanx of finger; Short foot; Short neck; Short nose; Short palm; Short sacroiliac notch; Short toe; Six lumbar vertebrae; Small nail; Somatic mutation; Splenomegaly; Submucous cleft lip; Supernumerary nipple; Talipes equinovarus; Tall stature; Toe syndactyly; Transposition of the great arteries; Two carpal ossification centers present at birth; Umbilical hernia; Ureteral duplication; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge; X-linked recessive inheritanceObesity
GPC4Xq26.2100%gene with protein product3001682-3 finger syndactyly; Abnormal lung lobation; Abnormality of the helix; Abnormality of the ribs; Accelerated skeletal maturation; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Birth length greater than 97th percentile; Broad foot; Broad palm; Broad secondary alveolar ridge; Broad thumb; Broad toe; Bundle branch block; Camptodactyly of finger; Cardiomyopathy; Cerebellar vermis hypoplasia; Cervical ribs; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Death in infancy; Dental malocclusion; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Duplication of renal pelvis; Enlarged kidney; Epicanthus; Finger syndactyly; Flared iliac wings; Generalized hypotonia; Hearing impairment; Hepatomegaly; Heterogeneous; High, narrow palate; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoglycemia; Hypospadias; Increased IgE level; Inguinal hernia; Intestinal malrotation; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Mandibular prognathia; Meckel diverticulum; Multicystic kidney dysplasia; Nail dysplasia; Narrow sacroiliac notch; Nephroblastoma; Neurological speech impairment; Omphalocele; Pancreatic islet-cell hyperplasia; Patent ductus arteriosus; Pectus excavatum; Polyhydramnios; Polysplenia; Postaxial hand polydactyly; Posterior helix pit; Preauricular pit; Preauricular skin tag; Prolonged QT interval; Pulmonic stenosis; Renal cyst; Scoliosis; Short 2nd finger; Short distal phalanx of finger; Short foot; Short neck; Short nose; Short palm; Short sacroiliac notch; Short toe; Six lumbar vertebrae; Small nail; Somatic mutation; Splenomegaly; Submucous cleft lip; Supernumerary nipple; Talipes equinovarus; Tall stature; Toe syndactyly; Transposition of the great arteries; Two carpal ossification centers present at birth; Umbilical hernia; Ureteral duplication; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
H1911p15.5RNA, long non-codingXomeDxSlice is not appropriate.103280Abdominal pain; Abnormality of the cardiovascular system; Abnormality of the dentition; Abnormality of the foot; Abnormality of the ureter; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Asymmetry of the thorax; Autosomal dominant inheritance; Blue sclerae; Cafe-au-lait spot; Cardiomegaly; Cardiomyopathy; Clinodactyly of the 5th finger; Coarse facial features; Congenital posterior urethral valve; Craniofacial disproportion; Craniopharyngioma; Cryptorchidism; Dandy-Walker malformation; Delayed cranial suture closure; Delayed skeletal maturation; Diastasis recti; Downturned corners of mouth; Enlarged kidney; Facial asymmetry; Fasting hypoglycemia; Frontal bossing; Global developmental delay; Gonadoblastoma; Growth hormone deficiency; Hemihypertrophy; Hepatoblastoma; Hepatocellular carcinoma; Hepatomegaly; Heterogeneous; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Large fontanelles; Macroglossia; Micrognathia; Midface retrusion; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Posterior helix pit; Prominent metopic ridge; Prominent occiput; Proptosis; Renal cortical cysts; Scoliosis; Short distal phalanx of the 5th finger; Short middle phalanx of the 5th finger; Small for gestational age; Somatic mutation; Sporadic; Syndactyly; Testicular seminoma; Triangular face; Vesicoureteral reflux
HADH4q25100%gene with protein product601609HADHSCAbnormality of acetylcarnitine metabolism; Autosomal recessive inheritance; Confusion; Decreased activity of 3-hydroxyacyl-CoA dehydrogenase; Diarrhea; Dicarboxylic aciduria; Dilated cardiomyopathy; Elevated hepatic transaminases; Fasting hyperinsulinemia; Feeding difficulties in infancy; Fulminant hepatic failure; Generalized hypotonia; Growth delay; Hepatic necrosis; Hepatic steatosis; Heterogeneous; Hyperinsulinemic hypoglycemia; Hypertrophic cardiomyopathy; Hypoglycemic coma; Hypoglycemic encephalopathy; Hypoglycemic seizures; Hypoketotic hypoglycemia; Increased C-peptide level; Increased circulating free fatty acid level; Intellectual disability; Intrauterine growth retardation; Lethargy; Muscular hypotonia; Myoglobinuria; Neonatal hypoglycemia; Neonatal hypotonia; Phenotypic variability; Proportionate short stature; VomitingRhabdomyolysis
HCRT17q21.2100%gene with protein product602358Abnormal rapid eye movement sleep; Abnormality of vision; Autosomal dominant inheritance; Cataplexy; Excessive daytime sleepiness; Excessive daytime somnolence; Hallucinations; Heterogeneous; Hypnagogic hallucinations; Hypnopompic hallucinations; Insomnia; Narcolepsy; Paroxysmal drowsiness; Transient global amnesia
HPS110q24.2100%gene with protein product604982HPSAbdominal pain; Abnormality of the hair; Albinism; Autosomal recessive inheritance; Bruising susceptibility; Cardiomyopathy; Epistaxis; Freckles in sun-exposed areas; Freckling; Gingival bleeding; Hematochezia; Heterogeneous; Inflammation of the large intestine; Melanocytic nevus; Nystagmus; Ocular albinism; Prolonged bleeding time; Pulmonary fibrosis; Renal insufficiency; Restrictive ventilatory defect; Severe visual impairmentAlbinism
HSPB17q11.23100%gene with protein product602195Adult onset; Areflexia; Areflexia of lower limbs; Autosomal dominant inheritance; Chronic axonal neuropathy; Decreased motor nerve conduction velocity; Difficulty walking; Distal amyotrophy; Distal lower limb amyotrophy; Distal lower limb muscle weakness; Distal muscle weakness; Distal sensory impairment; EMG: chronic denervation signs; EMG: neuropathic changes; Fasciculations; Foot dorsiflexor weakness; Heterogeneous; Hyporeflexia; Hyporeflexia of lower limbs; Impaired pain sensation; Impaired temperature sensation; Limb fasciculations; Lower limb muscle weakness; Muscle cramps; Paresis of extensor muscles of the big toe; Peripheral axonal neuropathy; Peripheral neuropathy; Pes cavus; Reduced tendon reflexes; Slow progression; Split hand; Steppage gait; Talipes equinovarus; Ulnar claw; Upper limb amyotrophy
HSPB812q24.23100%gene with protein product608014Areflexia; Areflexia of lower limbs; Autosomal dominant inheritance; Decreased amplitude of sensory action potentials; Decreased number of large peripheral myelinated nerve fibers; Distal amyotrophy; Distal lower limb muscle weakness; Distal muscle weakness; Distal sensory impairment; EMG: chronic denervation signs; EMG: neuropathic changes; Heterogeneous; Hyporeflexia; Hyporeflexia of lower limbs; Paresis of extensor muscles of the big toe; Peripheral axonal neuropathy; Pes cavus; Scoliosis
IGF211p15.5100%gene with protein product147470C11orf43Abnormality of the cardiovascular system; Abnormality of the dentition; Abnormality of the foot; Abnormality of the ureter; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Asymmetry of the thorax; Autosomal dominant inheritance; Blue sclerae; Cafe-au-lait spot; Cardiomegaly; Cardiomyopathy; Clinodactyly of the 5th finger; Coarse facial features; Congenital posterior urethral valve; Craniofacial disproportion; Craniopharyngioma; Cryptorchidism; Dandy-Walker malformation; Decreased body weight; Delayed cranial suture closure; Delayed skeletal maturation; Diastasis recti; Downturned corners of mouth; Enlarged kidney; Facial asymmetry; Fasting hypoglycemia; Feeding difficulties in infancy; Frontal bossing; Generalized hypotonia; Global developmental delay; Gonadoblastoma; Growth hormone deficiency; Hemihypertrophy; Hepatoblastoma; Hepatocellular carcinoma; Hepatomegaly; Heterogeneous; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Large fontanelles; Low-set ears; Macroglossia; Melanocytic nevus; Micrognathia; Midface retrusion; Motor delay; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Posterior helix pit; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Relative macrocephaly; Renal cortical cysts; Scoliosis; Short distal phalanx of the 5th finger; Short middle phalanx of the 5th finger; Short stature; Small for gestational age; Somatic mutation; Sporadic; Syndactyly; Testicular seminoma; Triangular face; Vesicoureteral reflux; X-linked recessive inheritance
IGF2R6q25.3100%gene with protein product147280Autosomal dominant inheritance; Hepatocellular carcinoma; Heterogeneous; Micronodular cirrhosis; Somatic mutation; Subacute progressive viral hepatitis
IHH2q35100%gene with protein product600726Absent distal interphalangeal creases; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Broad metacarpal epiphyses; Broad nail; Broad palm; Clinodactyly of the 5th finger; Cone-shaped capital femoral epiphysis; Cone-shaped epiphysis; Cone-shaped epiphysis of the 1st metacarpal; Cone-shaped metacarpal epiphyses; Coxa vara; Cupped ribs; Delayed ossification of carpal bones; Delayed skeletal maturation; Disproportionate short stature; Disproportionate short-limb short stature; Distal symphalangism of hands; Dysplasia of the femoral head; Enlargement of the distal femoral epiphysis; Fibular overgrowth; Flared iliac wings; Flattened metatarsal heads; Genu varum; Heterogeneous; Hyperlordosis; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic iliac wing; Lumbar hyperlordosis; Micromelia; Narrow chest; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Proportionate shortening of all digits; Radial deviation of the 2nd finger; Radial deviation of the 3rd finger; Radial deviation of the 4th finger; Relative macrocephaly; Scoliosis; Short distal phalanx of finger; Short femoral neck; Short femur; Short foot; Short hallux; Short humerus; Short metacarpal; Short middle phalanx of finger; Short palm; Short proximal phalanx of finger; Short proximal phalanx of hallux; Short proximal phalanx of thumb; Short ribs; Short stature; Short thumb; Short tibia; Skeletal dysplasia; Slender metacarpals; Small nail; Thin proximal phalanges with broad epiphyses of the hand
INPP5E9q34.3100%gene with protein product613037JBTS1Abnormality of saccadic eye movements; Abnormality of the foot; Agenesis of cerebellar vermis; Aggressive behavior; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Brainstem dysplasia; Cataract; Central apnea; Cerebellar vermis hypoplasia; Childhood-onset truncal obesity; Chorioretinal coloboma; Congenital hepatic fibrosis; Delayed speech and language development; Dysgenesis of the cerebellar vermis; Elevated hepatic transaminases; Elongated superior cerebellar peduncle; Enlarged fossa interpeduncularis; Epicanthus; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hemifacial spasm; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Highly arched eyebrow; Hyperactivity; Hyperreflexia; Hypoplasia of the brainstem; Impaired smooth pursuit; Intellectual disability; Intellectual disability, moderate; Intrahepatic biliary atresia; Iris coloboma; Long face; Low-set ears; Macrocephaly; Macroglossia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Neonatal breathing dysregulation; Nephropathy; Nystagmus; Oculomotor apraxia; Optic nerve coloboma; Phenotypic variability; Postaxial hand polydactyly; Prominent forehead; Protruding tongue; Ptosis; Retinal dystrophy; Self-mutilation; Triangular-shaped open mouth; Truncal obesity; Visual impairmentBardet-Biedl Syndrome ; Heterotaxy ; Obesity
INSR19p13.2100%gene with protein product147670Abdominal distention; Abnormal C-peptide level; Abnormal facial shape; Abnormality of the abdominal wall; Abnormality of the thyroid gland; Acanthosis nigricans; Accelerated skeletal maturation; Adipose tissue loss; Advanced eruption of teeth; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Cachexia; Cholestasis; Clitoral hypertrophy; Coarse facial features; Coarse hair; Cognitive impairment; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Diabetes mellitus; Diabetic ketoacidosis; Dry skin; Elfin facies; Fasting hyperinsulinemia; Fasting hypoglycemia; Fatigue; Feeding difficulties in infancy; Female pseudohermaphroditism; Generalized hirsutism; Generalized hyperpigmentation; Gingival overgrowth; Global developmental delay; Growth hormone excess; Gynecomastia; Hearing abnormality; Hepatic fibrosis; Heterogeneous; High palate; High, narrow palate; Hyperglycemia; Hyperinsulinemia; Hyperinsulinemic hypoglycemia; Hyperkeratosis; Hypermelanotic macule; Hypertelorism; Hypertrichosis; Hypoglycemia; Hypoglycemic coma; Hypoglycemic seizures; Inguinal hernia; Insulin-resistant diabetes mellitus; Intrauterine growth retardation; Large hands; Lipoatrophy; Long foot; Long penis; Low-set ears; Low-set, posteriorly rotated ears; Macrotia; Mandibular prognathia; Nail dysplasia; Onychauxis; Ovarian cyst; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Postnatal growth retardation; Postprandial hyperglycemia; Precocious puberty; Prematurely aged appearance; Prominent nipples; Proptosis; Proteinuria; Recurrent hypoglycemia; Recurrent infections; Recurrent respiratory infections; Seizures; Severe failure to thrive; Short stature; Skeletal muscle atrophy; Small face; Small for gestational age; Subcutaneous nodule; Thick lower lip vermilion; Thick nail; Thick nasal alae; Thickened nuchal skin fold; Type II diabetes mellitus; Umbilical hernia; Wide mouthObesity
IQCB13q13.3399.95%gene with protein product609237Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the optic disc; Aplasia/Hypoplasia of the cerebellar vermis; Autosomal recessive inheritance; Cataract; Encephalocele; Global developmental delay; Hemiplegia/hemiparesis; Heterogeneous; Hypertension; Keratoconus; Muscular hypotonia; Nephronophthisis; Nystagmus; Premature ovarian insufficiency; Progressive visual loss; Retinal dystrophy; Rod-cone dystrophy; Seizures; Severe visual impairment; Short stature; Stage 5 chronic kidney disease; Visual impairment
ITGB417q25.1100%gene with protein product147557Abdominal distention; Abnormality of skin pigmentation; Abnormality of the genitourinary system; Abnormality of the stomach; Anemia; Anonychia; Aplasia cutis congenita; Aplasia of the bladder; Arthrogryposis multiplex congenita; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary pterygia; Camptodactyly of finger; Carious teeth; Congenital onset; Congenital pyloric atresia; Death in infancy; Dehydration; Dysphagia; Ectropion; Elevated maternal serum alpha-fetoprotein; Esophageal atresia; Failure to thrive; Fragile nails; Fragile skin; Glomerulosclerosis; Hematuria; Heterogeneous; Hydronephrosis; Hypodontia; Hypoplasia of dental enamel; Intestinal atresia; Intractable diarrhea; Junctional split; Limitation of joint mobility; Milia; Nail dysplasia; Nail dystrophy; Nausea and vomiting; Oral mucosal blisters; Palmar hyperhidrosis; Palmoplantar blistering; Plantar hyperkeratosis; Polyhydramnios; Premature birth; Recurrent skin infections; Renal duplication; Renal dysplasia; Scarring alopecia of scalp; Sepsis; Skin erosion; Sparse body hair; Ureterocele; Urethral stricture; Urinary bladder inflammationNephrotic Syndrome ; Palmoplantar keratoderma plus congenital ichthyosis
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
JUP17q21.2100%gene with protein product173325CTNNGAcantholysis; Alopecia; Anonychia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cardiomegaly; Cardiomyopathy; Cleft upper lip; Congestive heart failure; Curly hair; Dilated cardiomyopathy; Epidermal acanthosis; Fragile skin; Heterogeneous; Hyperhidrosis; Nail dystrophy; Onycholysis; Oral mucosal blisters; Palmoplantar keratoderma; Paroxysmal ventricular tachycardia; Right bundle branch block; Right ventricular cardiomyopathy; Skin erosion; Sparse and thin eyebrow; Sparse scalp hair; Sudden cardiac death; Sudden death; Syncope; Ventricular arrhythmia; Ventricular tachycardia; Vertigo; Woolly hairEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
KCNE121q22.12100%gene with protein product176261Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital sensorineural hearing impairment; Heterogeneous; Prolonged QT interval; Sensorineural hearing impairment; Sudden cardiac death; Syncope; Torsade de pointes; Ventricular fibrillation
KCNE121q22.12100%gene with protein product176261Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital sensorineural hearing impairment; Heterogeneous; Prolonged QT interval; Sensorineural hearing impairment; Sudden cardiac death; Syncope; Torsade de pointes; Ventricular fibrillation
KCNE221q22.11100%gene with protein product603796Atrial fibrillation; Autosomal dominant inheritance; Heterogeneous; Prolonged QT interval; Sudden cardiac death; Syncope; Torsade de pointes; Ventricular fibrillation
KCNH27q36.199.72%gene with protein product152427LQT2Atrial fibrillation; Autosomal dominant inheritance; Bradycardia; Cardiac arrest; Heterogeneous; Palpitations; Prolonged QT interval; Shortened QT interval; Sudden cardiac death; Syncope; Torsade de pointes; Ventricular fibrillation
KCNJ111q24.3100%gene with protein product600359Abnormally large globe; Autosomal recessive inheritance; Chondrocalcinosis; Constipation; Dehydration; Diarrhea; Failure to thrive; Fetal polyuria; Fever; Frontal bossing; Generalized muscle weakness; Global developmental delay; Heterogeneous; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hypercalciuria; Hyperchloriduria; Hyperprostaglandinuria; Hypochloremia; Hypokalemia; Hypokalemic metabolic alkalosis; Hyposthenuria; Impaired platelet aggregation; Increased circulating renin level; Increased serum prostaglandin E2; Increased urinary potassium; Intellectual disability; Low-to-normal blood pressure; Macrocephaly; Macrotia; Muscle cramps; Nephrocalcinosis; Osteopenia; Paresthesia; Polydipsia; Polyhydramnios; Polyuria; Premature birth; Prominent forehead; Renal juxtaglomerular cell hypertrophy/hyperplasia; Renal potassium wasting; Renal salt wasting; Seizures; Short stature; Small for gestational age; Tetany; Triangular face; Vomiting
KCNJ1111p15.1100%gene with protein product600937Abnormal heart morphology; Abnormality of fatty-acid metabolism; Abnormality of the ear; Abnormality of the immune system; Abnormality of the pancreatic islet cells; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Beta-cell dysfunction; Bilateral ptosis; Clinodactyly; Coma; Contractures of the joints of the lower limbs; Dehydration; Diabetes mellitus; Diarrhea; Downturned corners of mouth; Elevated hemoglobin A1c; Failure to thrive; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Glycosuria; Hepatomegaly; Heterogeneous; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hypoglycemia; Hypoketotic hypoglycemia; Hypovolemia; Hypsarrhythmia; Intellectual disability; Intrauterine growth retardation; Ketoacidosis; Ketonuria; Large for gestational age; Lethargy; Limb joint contracture; Long philtrum; Maternal diabetes; Maturity-onset diabetes of the young; Microalbuminuria; Microcephaly; Mild global developmental delay; Motor delay; Muscle weakness; Muscular hypotonia of the trunk; Neonatal hypoglycemia; Neonatal insulin-dependent diabetes mellitus; Pallor; Pancreatic islet-cell hyperplasia; Peripheral neuropathy; Progressive neurologic deterioration; Prominent metopic ridge; Ptosis; Radial deviation of finger; Reduced pancreatic beta cells; Retinopathy; Seizures; Short nose; Small for gestational age; Tachycardia; Transient neonatal diabetes mellitus; Vitamin B1 deficiency; Vomiting; Weight loss
KCNQ111p15.5-p15.100%gene with protein product607542LQT, KCNA9Abnormality of the ear; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Atrial fibrillation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bradycardia; Cardiomegaly; Cardiomyopathy; Coarse facial features; Congenital sensorineural hearing impairment; Cryptorchidism; Dandy-Walker malformation; Diastasis recti; Enlarged kidney; Gonadoblastoma; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; Heterogeneous; Large fontanelles; Macroglossia; Midface retrusion; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Palpitations; Pancreatic hyperplasia; Posterior helix pit; Prolonged QT interval; Prominent metopic ridge; Prominent occiput; Proptosis; Renal cortical cysts; Shortened QT interval; Sudden cardiac death; Syncope; Tachycardia; Thromboembolic stroke; Torsade de pointes; Ventricular fibrillation; Vesicoureteral reflux
KCNQ111p15.5-p15.100%gene with protein product607542LQT, KCNA9Abnormality of the ear; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Atrial fibrillation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bradycardia; Cardiomegaly; Cardiomyopathy; Coarse facial features; Congenital sensorineural hearing impairment; Cryptorchidism; Dandy-Walker malformation; Diastasis recti; Enlarged kidney; Gonadoblastoma; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; Heterogeneous; Large fontanelles; Macroglossia; Midface retrusion; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Palpitations; Pancreatic hyperplasia; Posterior helix pit; Prolonged QT interval; Prominent metopic ridge; Prominent occiput; Proptosis; Renal cortical cysts; Shortened QT interval; Sudden cardiac death; Syncope; Tachycardia; Thromboembolic stroke; Torsade de pointes; Ventricular fibrillation; Vesicoureteral reflux
KCNQ111p15.5-p15.100%gene with protein product607542LQT, KCNA9Abnormality of the ear; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Atrial fibrillation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bradycardia; Cardiomegaly; Cardiomyopathy; Coarse facial features; Congenital sensorineural hearing impairment; Cryptorchidism; Dandy-Walker malformation; Diastasis recti; Enlarged kidney; Gonadoblastoma; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; Heterogeneous; Large fontanelles; Macroglossia; Midface retrusion; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Palpitations; Pancreatic hyperplasia; Posterior helix pit; Prolonged QT interval; Prominent metopic ridge; Prominent occiput; Proptosis; Renal cortical cysts; Shortened QT interval; Sudden cardiac death; Syncope; Tachycardia; Thromboembolic stroke; Torsade de pointes; Ventricular fibrillation; Vesicoureteral reflux
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
KIF1B1p36.2299.97%gene with protein product605995CMT2A, CMT2Adrenal pheochromocytoma; Areflexia; Autosomal dominant inheritance; Axonal degeneration/regeneration; Cafe-au-lait spot; Cerebral hemorrhage; Chest pain; Congenital cataract; Congestive heart failure; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysphonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Foot dorsiflexor weakness; Glomerulosclerosis; Hammertoe; Hemangioma; Heterogeneous; Hypercalcemia; Hyperhidrosis; Hypertensive retinopathy; Hyporeflexia; Nausea; Neoplasm; Onion bulb formation; Onset; Palpitations; Paraganglioma of head and neck; Paroxysmal vertigo; Peripheral axonal atrophy; Pes cavus; Pheochromocytoma; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Renal artery stenosis; Sinus tachycardia; Slow progression; Steppage gait; Tachycardia; Weight loss
KIF715q26.199.94%gene with protein product611254Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of epiphysis morphology; Abnormality of the sense of smell; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid distal phalanx of the thumb; Bifid uvula; Brachydactyly; Brain atrophy; Broad forehead; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Dandy-Walker malformation; Deeply set eye; Downslanted palpebral fissures; Duplication of phalanx of hallux; Duplication of thumb phalanx; Epicanthus; Failure to thrive; Finger syndactyly; Frontal bossing; Genu valgum; Gingival cleft; Growth delay; Heterogeneous; Hydrocephalus; Hypertelorism; Hypopigmentation of the fundus; Inguinal hernia; Intellectual disability, severe; Joint dislocation; Laryngomalacia; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Malar flattening; Micrognathia; Molar tooth sign on MRI; Multiple epiphyseal dysplasia; Obesity; Osteoarthritis; Pectus carinatum; Pectus excavatum; Phenotypic variability; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Postnatal growth retardation; Preauricular skin tag; Preaxial foot polydactyly; Preaxial hand polydactyly; Preaxial polydactyly; Premature birth; Prominent forehead; Prominent occiput; Rectovaginal fistula; Retrognathia; Short neck; Short nose; Sloping forehead; Submucous cleft hard palate; Toe syndactyly; Tracheal atresia; Triangular mouth; Triphalangeal thumb; Umbilical hernia; Unilateral cleft lip; Ventriculomegaly; Wide anterior fontanelHeterotaxy
KRAS12p12.1100%gene with protein product190070KRAS2Abdominal pain; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal morphology of the nasolacrimal system; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of the eyelashes; Abnormality of the spleen; Abnormality of the ulna; Abnormality of the ureter; Abnormality of toe; Abnormality of vision; Absent eyebrow; Absent septum pellucidum; Acute myeloid leukemia; Adenoma sebaceum; Aganglionic megacolon; Agenesis of corpus callosum; Alopecia; Alveolar cell carcinoma; Anorexia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the skin; Arrhythmia; Asymmetric growth; Atrial septal defect; Atrial septal dilatation; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Back pain; Basal cell carcinoma; Biparietal narrowing; Blepharophimosis; Bone cyst; Brachydactyly; Breast carcinoma; Brittle hair; Broad forehead; Capillary hemangiomas; Cavernous hemangioma; Cerebral calcification; Cerebral cortical atrophy; Chronic atrophic gastritis; Chronic fatigue; Coarctation of aorta; Coarse facial features; Coarse hair; Coloboma; Colon cancer; Constipation; Corneal opacity; Cranial asymmetry; Craniofacial hyperostosis; Cryptorchidism; Curly hair; Cystic hygroma; Death in early adulthood; Death in infancy; Deep palmar crease; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphasia; Dystrophic fingernails; Echolalia; EEG abnormality; Enlarged thorax; Epibulbar dermoid; Epicanthus; Excessive wrinkled skin; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Facial asymmetry; Failure to thrive; Failure to thrive in infancy; Fatigue; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Functional intestinal obstruction; Gastrointestinal hemorrhage; Generalized hyperpigmentation; Genu recurvatum; Glioblastoma multiforme; Global developmental delay; Growth delay; Hearing impairment; Hemangioma; Hemimegalencephaly; Hepatomegaly; Heterogeneous; High forehead; High palate; Horseshoe kidney; Hyperextensible skin; Hyperreflexia; Hypertelorism; Hypertonia; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Hypoplasia of the zygomatic bone; Ichthyosis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intestinal pseudo-obstruction; Iris coloboma; Irregular hyperpigmentation; Irritability; Jaundice; Joint hyperflexibility; Juvenile myelomonocytic leukemia; Kyphoscoliosis; Laryngeal hypoplasia; Lipodystrophy; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Macrocephaly; Macrotia; Malabsorption; Melanocytic nevus; Micrognathia; Microphthalmia; Midface retrusion; Migraine; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple lipomas; Muscle stiffness; Muscle weakness; Muscular hypotonia; Mutism; Myopia; Nausea and vomiting; Neoplasm of the pancreas; Neoplasm of the rectum; Neoplasm of the skeletal system; Nevus flammeus; Nevus sebaceous; Nystagmus; Osteolysis; Osteopenia; Overgrowth; Palmoplantar keratoderma; Pancreatic adenocarcinoma; Pectus carinatum; Pectus excavatum; Peripheral axonal neuropathy; Plagiocephaly; Polyhydramnios; Poor appetite; Porencephalic cyst; Posteriorly rotated ears; Premature birth; Prominent occiput; Proptosis; Ptosis; Pulmonary arterial hypertension; Pulmonary artery stenosis; Pulmonic stenosis; Recurrent fractures; Reduced tendon reflexes; Retinopathy; Rigidity; Sagittal craniosynostosis; Scoliosis; Seizures; Short neck; Short nose; Short palm; Short palpebral fissure; Short stature; Slow-growing hair; Somatic mosaicism; Somatic mutation; Sparse hair; Sparse or absent eyelashes; Spasticity; Sporadic; Stomach cancer; Strabismus; Subcortical cerebral atrophy; Subcutaneous nodule; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Tricuspid valve prolapse; Underdeveloped supraorbital ridges; Ventricular septal defect; Ventriculomegaly; Vertebral segmentation defect; Visceral angiomatosis; Webbed neck; Weight loss; Wide intermamillary distance; XanthomatosisBone Marrow Failure Syndromes
KRIT17q21.299.98%gene with protein product604214CCM1Abnormality of the musculature; Abnormality of the skin; Autosomal dominant inheritance; Cerebral calcification; Cerebral hemorrhage; Focal T2 hyperintense brainstem lesion; Focal T2 hypointense brainstem lesion; Headache; Hepatic vascular malformations; Heterogeneous; Incomplete penetrance; Increased intracranial pressure; Intracranial hemorrhage; Meningioma; Neuroma; Retinal vascular malformation; Scoliosis; SeizuresPalmoplantar keratoderma plus congenital ichthyosis
KRT1617q21.2100%gene with protein product148067Abnormal blistering of the skin; Abnormality of nail color; Abnormality of the fingernails; Autosomal dominant inheritance; Carious teeth; Eczema; Epidermoid cyst; Erythema; Follicular hyperkeratosis; Heterogeneous; Hyperhidrosis; Ichthyosis; Localized epidermolytic hyperkeratosis; Nail dystrophy; Oral leukoplakia; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Skin plaque; Thick nail; VerrucaeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
KRT1717q21.2100%gene with protein product148069PCHC1Abnormal blistering of the skin; Abnormality of nail color; Adenoma sebaceum; Autosomal dominant inheritance; Carious teeth; Dry hair; Epidermoid cyst; Folliculitis; Heterogeneous; Hoarse voice; Hyperhidrosis; Ichthyosis; Nail dysplasia; Nail dystrophy; Natal tooth; Oral leukoplakia; Palmoplantar hyperhidrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Skin plaque; Sparse and thin eyebrow; Sparse scalp hair; Steatocystoma multiplex; Subungual hyperkeratosis; Thick nailPalmoplantar keratoderma plus congenital ichthyosis
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
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
LAMB31q32.2100%gene with protein product150310LAMNB1Abnormal blistering of the skin; Abnormality of skin pigmentation; Amelogenesis imperfecta; Anemia; Anonychia; Aplasia cutis congenita; Atrophic scars; Autosomal dominant inheritance; 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; Generalized microdontia; Heterogeneous; Hoarse voice; Hypodontia; Hypoplasia of dental enamel; Junctional split; Laryngeal stenosis; Laryngeal stridor; Milia; Nail dysplasia; Nail dystrophy; Oral mucosal blisters; Palmar hyperhidrosis; Paronychia; Plantar hyperkeratosis; Pyloric stenosis; Scarring alopecia of scalp; Skin erosion; Sparse body hairPalmoplantar keratoderma plus congenital ichthyosis
LAMC21q25.3100%gene with protein product150292EBR2, LAMB2T, LAMNB2, EBR2AAbnormal blistering of the skin; Abnormality of skin pigmentation; 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 voice; Hypodontia; Hypoplasia of dental enamel; Junctional split; Laryngeal stenosis; Laryngeal stridor; Milia; Nail dysplasia; Nail dystrophy; Oral mucosal blisters; Palmar hyperhidrosis; Paronychia; Plantar hyperkeratosis; Pyloric stenosis; Scarring alopecia of scalp; Skin erosion; Sparse body hairPalmoplantar 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)
LITAF16p13.13100%gene with protein product603795Autosomal dominant inheritance; Decreased motor nerve conduction velocity; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Juvenile onset; Onion bulb formation; Pes cavus; Segmental peripheral demyelination/remyelination
LMNA1q22100%gene with protein product150330LMN1, CMD1A, LGMD1B, PRO1, LMNL1Abnormal atrioventricular conduction; Abnormal cellular phenotype; Abnormal electrophysiology of sinoatrial node origin; Abnormal eyebrow morphology; Abnormal hair whorl; Abnormal trabecular bone morphology; Abnormality of circulating leptin level; Abnormality of retinal pigmentation; Abnormality of the Achilles tendon; Abnormality of the cerebral vasculature; Abnormality of the foot; Abnormality of the intrahepatic bile duct; Abnormality of the nail; Abnormality of the pinna; Abnormality of the pulmonary artery; Abnormality of the testis; Abnormality of the voice; Absence of pubertal development; Absence of subcutaneous fat; Absent eyebrow; Absent eyelashes; Acanthosis nigricans; Accelerated atherosclerosis; Achilles tendon contracture; Acroosteolysis of distal phalanges (feet); Acute pancreatitis; Adipose tissue loss; Adrenal hypoplasia; Advanced eruption of teeth; Alopecia; Alopecia universalis; Aminoaciduria; Angina pectoris; Aortic atherosclerosis; Aortic root aneurysm; Aortic valve calcification; Aortic valve stenosis; Aplasia of the middle phalanx of the hand; Aplasia of the phalanges of the 3rd toe; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Areflexia; Arrhythmia; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atherosclerosis; Atrial arrhythmia; Atrial fibrillation; Atrial flutter; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Axonal degeneration/regeneration; Basal cell carcinoma; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brachydactyly; Bradycardia; Broad-based gait; Calcinosis; Calf muscle hypertrophy; Choanal atresia; Chondrocalcinosis; Clinodactyly; Congenital muscular dystrophy; Congenital pseudoarthrosis of the clavicle; Congestive heart failure; Convex nasal ridge; Coronary artery atherosclerosis; Craniofacial disproportion; Cyanosis; Decreased adiponectin level; Decreased calvarial ossification; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Decreased circulating high-density lipoprotein levels; Decreased fertility; Decreased fetal movement; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum leptin; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Delayed puberty; Dental crowding; Dermal atrophy; Dermal translucency; Diabetes mellitus; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Downslanted palpebral fissures; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Emphysema; Enlarged peripheral nerve; Entropion; Epidermal hyperkeratosis; Failure to thrive; Fasting hyperinsulinemia; Fatiguable weakness of proximal limb muscles; Feeding difficulties; Flexion contracture; Foot dorsiflexor weakness; Fragile nails; Full cheeks; Gait disturbance; Generalized amyotrophy; Generalized hyperkeratosis; Generalized lipodystrophy; Generalized osteoporosis; Global developmental delay; Glucose intolerance; Glycosuria; Growth delay; Hepatic steatosis; Hepatomegaly; Heterogeneous; High palate; High pitched voice; Hirsutism; Hydropic placenta; Hypercholesterolemia; Hyperglycemia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperkeratosis; Hyperlipidemia; Hyperlordosis; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypertension; Hypertriglyceridemia; Hypodontia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hyporeflexia; Hypospadias; Hypotrichosis; Increased adipose tissue around the neck; Increased anterioposterior diameter of thorax; Increased facial adipose tissue; Increased intraabdominal fat; Increased intramuscular fat; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intervertebral disc degeneration; Intracranial hemorrhage; Intrauterine growth retardation; Joint stiffness; Juvenile onset; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Labial pseudohypertrophy; Lack of skin elasticity; Large fontanelles; Laryngomalacia; Limb muscle weakness; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Limitation of joint mobility; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Malar flattening; Meningioma; Metaphyseal widening; Micrognathia; Midface retrusion; Mildly elevated creatine phosphokinase; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve calcification; Motor delay; Mottled pigmentation; Multiple joint contractures; Muscle hypertrophy of the lower extremities; Muscular dystrophy; Muscular hypotonia; Myalgia; Myocardial infarction; Myopathy; Nail dysplasia; Narrow face; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Neck muscle weakness; Neoplasm of the breast; Neoplasm of the lung; Neoplasm of the oral cavity; Neoplasm of the skin; Neoplasm of the small intestine; Neoplasm of the thyroid gland; Onion bulb formation; Onset; Osteoarthritis; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Osteosarcoma; Ovarian neoplasm; Overtubulated long bones; Ovoid vertebral bodies; Papillary renal cell carcinoma; Patchy hypo- and hyperpigmentation; Patent ductus arteriosus; Pelvic girdle amyotrophy; Pelvic girdle muscle weakness; Pericardial effusion; Peripheral arterial stenosis; Peripheral axonal atrophy; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Pili torti; Polycystic ovaries; Polyhydramnios; Poor head control; Postnatal growth retardation; Precocious atherosclerosis; Precocious puberty; Premature arteriosclerosis; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature ovarian insufficiency; Premature rupture of membranes; Premature skin wrinkling; Progeroid facial appearance; Progressive; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Prominent superficial veins; Proptosis; Proximal muscle weakness; Proximal muscle weakness in upper limbs; Proximal upper limb muscle hypertrophy; Ptosis; Pulmonary carcinoid tumor; Pulmonary hypoplasia; Reduced subcutaneous adipose tissue; Renal neoplasm; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Reticulated skin pigmentation; Retinal degeneration; Retrognathia; Rocker bottom foot; Round face; Scaling skin; Scapular winging; Scleroderma; Sclerosis of hand bone; Secondary amenorrhea; Sensorineural hearing impairment; Severe muscular hypotonia; Short clavicles; Short distal phalanx of finger; Short nail; Short palm; Short palpebral fissure; Short stature; Short umbilical cord; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Skin erosion; Skin ulcer; Slow progression; Small placenta; Sparse and thin eyebrow; Sparse body hair; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Sparse scalp hair; Spinal rigidity; Squamous cell carcinoma of the skin; Steppage gait; Stiff skin; Stillbirth; Structural foot deformity; Subcutaneous calcification; Submucous cleft hard palate; Sudden cardiac death; Supraventricular arrhythmia; Syncope; Syndactyly; Talipes; Tapering pointed ends of distal finger phalanges; Telangiectasia of the skin; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Type II diabetes mellitus; Upper limb muscle weakness; Ureteral duplication; Variable expressivity; Ventricular arrhythmia; Ventricular hypertrophy; White forelock; Wide nasal bridge; Widely patent fontanelles and sutures; Wormian bones; X-linked inheritance; XanthomatosisHeterotaxy ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
LMNA1q22100%gene with protein product150330LMN1, CMD1A, LGMD1B, PRO1, LMNL1Abnormal atrioventricular conduction; Abnormal cellular phenotype; Abnormal electrophysiology of sinoatrial node origin; Abnormal eyebrow morphology; Abnormal hair whorl; Abnormal trabecular bone morphology; Abnormality of circulating leptin level; Abnormality of retinal pigmentation; Abnormality of the Achilles tendon; Abnormality of the cerebral vasculature; Abnormality of the foot; Abnormality of the intrahepatic bile duct; Abnormality of the nail; Abnormality of the pinna; Abnormality of the pulmonary artery; Abnormality of the testis; Abnormality of the voice; Absence of pubertal development; Absence of subcutaneous fat; Absent eyebrow; Absent eyelashes; Acanthosis nigricans; Accelerated atherosclerosis; Achilles tendon contracture; Acroosteolysis of distal phalanges (feet); Acute pancreatitis; Adipose tissue loss; Adrenal hypoplasia; Advanced eruption of teeth; Alopecia; Alopecia universalis; Aminoaciduria; Angina pectoris; Aortic atherosclerosis; Aortic root aneurysm; Aortic valve calcification; Aortic valve stenosis; Aplasia of the middle phalanx of the hand; Aplasia of the phalanges of the 3rd toe; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Areflexia; Arrhythmia; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atherosclerosis; Atrial arrhythmia; Atrial fibrillation; Atrial flutter; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Axonal degeneration/regeneration; Basal cell carcinoma; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brachydactyly; Bradycardia; Broad-based gait; Calcinosis; Calf muscle hypertrophy; Choanal atresia; Chondrocalcinosis; Clinodactyly; Congenital muscular dystrophy; Congenital pseudoarthrosis of the clavicle; Congestive heart failure; Convex nasal ridge; Coronary artery atherosclerosis; Craniofacial disproportion; Cyanosis; Decreased adiponectin level; Decreased calvarial ossification; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Decreased circulating high-density lipoprotein levels; Decreased fertility; Decreased fetal movement; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum leptin; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Delayed puberty; Dental crowding; Dermal atrophy; Dermal translucency; Diabetes mellitus; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Downslanted palpebral fissures; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Emphysema; Enlarged peripheral nerve; Entropion; Epidermal hyperkeratosis; Failure to thrive; Fasting hyperinsulinemia; Fatiguable weakness of proximal limb muscles; Feeding difficulties; Flexion contracture; Foot dorsiflexor weakness; Fragile nails; Full cheeks; Gait disturbance; Generalized amyotrophy; Generalized hyperkeratosis; Generalized lipodystrophy; Generalized osteoporosis; Global developmental delay; Glucose intolerance; Glycosuria; Growth delay; Hepatic steatosis; Hepatomegaly; Heterogeneous; High palate; High pitched voice; Hirsutism; Hydropic placenta; Hypercholesterolemia; Hyperglycemia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperkeratosis; Hyperlipidemia; Hyperlordosis; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypertension; Hypertriglyceridemia; Hypodontia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hyporeflexia; Hypospadias; Hypotrichosis; Increased adipose tissue around the neck; Increased anterioposterior diameter of thorax; Increased facial adipose tissue; Increased intraabdominal fat; Increased intramuscular fat; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intervertebral disc degeneration; Intracranial hemorrhage; Intrauterine growth retardation; Joint stiffness; Juvenile onset; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Labial pseudohypertrophy; Lack of skin elasticity; Large fontanelles; Laryngomalacia; Limb muscle weakness; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Limitation of joint mobility; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Malar flattening; Meningioma; Metaphyseal widening; Micrognathia; Midface retrusion; Mildly elevated creatine phosphokinase; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve calcification; Motor delay; Mottled pigmentation; Multiple joint contractures; Muscle hypertrophy of the lower extremities; Muscular dystrophy; Muscular hypotonia; Myalgia; Myocardial infarction; Myopathy; Nail dysplasia; Narrow face; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Neck muscle weakness; Neoplasm of the breast; Neoplasm of the lung; Neoplasm of the oral cavity; Neoplasm of the skin; Neoplasm of the small intestine; Neoplasm of the thyroid gland; Onion bulb formation; Onset; Osteoarthritis; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Osteosarcoma; Ovarian neoplasm; Overtubulated long bones; Ovoid vertebral bodies; Papillary renal cell carcinoma; Patchy hypo- and hyperpigmentation; Patent ductus arteriosus; Pelvic girdle amyotrophy; Pelvic girdle muscle weakness; Pericardial effusion; Peripheral arterial stenosis; Peripheral axonal atrophy; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Pili torti; Polycystic ovaries; Polyhydramnios; Poor head control; Postnatal growth retardation; Precocious atherosclerosis; Precocious puberty; Premature arteriosclerosis; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature ovarian insufficiency; Premature rupture of membranes; Premature skin wrinkling; Progeroid facial appearance; Progressive; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Prominent superficial veins; Proptosis; Proximal muscle weakness; Proximal muscle weakness in upper limbs; Proximal upper limb muscle hypertrophy; Ptosis; Pulmonary carcinoid tumor; Pulmonary hypoplasia; Reduced subcutaneous adipose tissue; Renal neoplasm; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Reticulated skin pigmentation; Retinal degeneration; Retrognathia; Rocker bottom foot; Round face; Scaling skin; Scapular winging; Scleroderma; Sclerosis of hand bone; Secondary amenorrhea; Sensorineural hearing impairment; Severe muscular hypotonia; Short clavicles; Short distal phalanx of finger; Short nail; Short palm; Short palpebral fissure; Short stature; Short umbilical cord; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Skin erosion; Skin ulcer; Slow progression; Small placenta; Sparse and thin eyebrow; Sparse body hair; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Sparse scalp hair; Spinal rigidity; Squamous cell carcinoma of the skin; Steppage gait; Stiff skin; Stillbirth; Structural foot deformity; Subcutaneous calcification; Submucous cleft hard palate; Sudden cardiac death; Supraventricular arrhythmia; Syncope; Syndactyly; Talipes; Tapering pointed ends of distal finger phalanges; Telangiectasia of the skin; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Type II diabetes mellitus; Upper limb muscle weakness; Ureteral duplication; Variable expressivity; Ventricular arrhythmia; Ventricular hypertrophy; White forelock; Wide nasal bridge; Widely patent fontanelles and sutures; Wormian bones; X-linked inheritance; XanthomatosisHeterotaxy ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
LMNA1q22100%gene with protein product150330LMN1, CMD1A, LGMD1B, PRO1, LMNL1Abnormal atrioventricular conduction; Abnormal cellular phenotype; Abnormal electrophysiology of sinoatrial node origin; Abnormal eyebrow morphology; Abnormal hair whorl; Abnormal trabecular bone morphology; Abnormality of circulating leptin level; Abnormality of retinal pigmentation; Abnormality of the Achilles tendon; Abnormality of the cerebral vasculature; Abnormality of the foot; Abnormality of the intrahepatic bile duct; Abnormality of the nail; Abnormality of the pinna; Abnormality of the pulmonary artery; Abnormality of the testis; Abnormality of the voice; Absence of pubertal development; Absence of subcutaneous fat; Absent eyebrow; Absent eyelashes; Acanthosis nigricans; Accelerated atherosclerosis; Achilles tendon contracture; Acroosteolysis of distal phalanges (feet); Acute pancreatitis; Adipose tissue loss; Adrenal hypoplasia; Advanced eruption of teeth; Alopecia; Alopecia universalis; Aminoaciduria; Angina pectoris; Aortic atherosclerosis; Aortic root aneurysm; Aortic valve calcification; Aortic valve stenosis; Aplasia of the middle phalanx of the hand; Aplasia of the phalanges of the 3rd toe; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Areflexia; Arrhythmia; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atherosclerosis; Atrial arrhythmia; Atrial fibrillation; Atrial flutter; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Axonal degeneration/regeneration; Basal cell carcinoma; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brachydactyly; Bradycardia; Broad-based gait; Calcinosis; Calf muscle hypertrophy; Choanal atresia; Chondrocalcinosis; Clinodactyly; Congenital muscular dystrophy; Congenital pseudoarthrosis of the clavicle; Congestive heart failure; Convex nasal ridge; Coronary artery atherosclerosis; Craniofacial disproportion; Cyanosis; Decreased adiponectin level; Decreased calvarial ossification; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Decreased circulating high-density lipoprotein levels; Decreased fertility; Decreased fetal movement; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum leptin; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Delayed puberty; Dental crowding; Dermal atrophy; Dermal translucency; Diabetes mellitus; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Downslanted palpebral fissures; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Emphysema; Enlarged peripheral nerve; Entropion; Epidermal hyperkeratosis; Failure to thrive; Fasting hyperinsulinemia; Fatiguable weakness of proximal limb muscles; Feeding difficulties; Flexion contracture; Foot dorsiflexor weakness; Fragile nails; Full cheeks; Gait disturbance; Generalized amyotrophy; Generalized hyperkeratosis; Generalized lipodystrophy; Generalized osteoporosis; Global developmental delay; Glucose intolerance; Glycosuria; Growth delay; Hepatic steatosis; Hepatomegaly; Heterogeneous; High palate; High pitched voice; Hirsutism; Hydropic placenta; Hypercholesterolemia; Hyperglycemia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperkeratosis; Hyperlipidemia; Hyperlordosis; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypertension; Hypertriglyceridemia; Hypodontia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hyporeflexia; Hypospadias; Hypotrichosis; Increased adipose tissue around the neck; Increased anterioposterior diameter of thorax; Increased facial adipose tissue; Increased intraabdominal fat; Increased intramuscular fat; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intervertebral disc degeneration; Intracranial hemorrhage; Intrauterine growth retardation; Joint stiffness; Juvenile onset; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Labial pseudohypertrophy; Lack of skin elasticity; Large fontanelles; Laryngomalacia; Limb muscle weakness; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Limitation of joint mobility; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Malar flattening; Meningioma; Metaphyseal widening; Micrognathia; Midface retrusion; Mildly elevated creatine phosphokinase; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve calcification; Motor delay; Mottled pigmentation; Multiple joint contractures; Muscle hypertrophy of the lower extremities; Muscular dystrophy; Muscular hypotonia; Myalgia; Myocardial infarction; Myopathy; Nail dysplasia; Narrow face; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Neck muscle weakness; Neoplasm of the breast; Neoplasm of the lung; Neoplasm of the oral cavity; Neoplasm of the skin; Neoplasm of the small intestine; Neoplasm of the thyroid gland; Onion bulb formation; Onset; Osteoarthritis; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Osteosarcoma; Ovarian neoplasm; Overtubulated long bones; Ovoid vertebral bodies; Papillary renal cell carcinoma; Patchy hypo- and hyperpigmentation; Patent ductus arteriosus; Pelvic girdle amyotrophy; Pelvic girdle muscle weakness; Pericardial effusion; Peripheral arterial stenosis; Peripheral axonal atrophy; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Pili torti; Polycystic ovaries; Polyhydramnios; Poor head control; Postnatal growth retardation; Precocious atherosclerosis; Precocious puberty; Premature arteriosclerosis; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature ovarian insufficiency; Premature rupture of membranes; Premature skin wrinkling; Progeroid facial appearance; Progressive; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Prominent superficial veins; Proptosis; Proximal muscle weakness; Proximal muscle weakness in upper limbs; Proximal upper limb muscle hypertrophy; Ptosis; Pulmonary carcinoid tumor; Pulmonary hypoplasia; Reduced subcutaneous adipose tissue; Renal neoplasm; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Reticulated skin pigmentation; Retinal degeneration; Retrognathia; Rocker bottom foot; Round face; Scaling skin; Scapular winging; Scleroderma; Sclerosis of hand bone; Secondary amenorrhea; Sensorineural hearing impairment; Severe muscular hypotonia; Short clavicles; Short distal phalanx of finger; Short nail; Short palm; Short palpebral fissure; Short stature; Short umbilical cord; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Skin erosion; Skin ulcer; Slow progression; Small placenta; Sparse and thin eyebrow; Sparse body hair; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Sparse scalp hair; Spinal rigidity; Squamous cell carcinoma of the skin; Steppage gait; Stiff skin; Stillbirth; Structural foot deformity; Subcutaneous calcification; Submucous cleft hard palate; Sudden cardiac death; Supraventricular arrhythmia; Syncope; Syndactyly; Talipes; Tapering pointed ends of distal finger phalanges; Telangiectasia of the skin; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Type II diabetes mellitus; Upper limb muscle weakness; Ureteral duplication; Variable expressivity; Ventricular arrhythmia; Ventricular hypertrophy; White forelock; Wide nasal bridge; Widely patent fontanelles and sutures; Wormian bones; X-linked inheritance; XanthomatosisHeterotaxy ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
LMNA1q22100%gene with protein product150330LMN1, CMD1A, LGMD1B, PRO1, LMNL1Abnormal atrioventricular conduction; Abnormal cellular phenotype; Abnormal electrophysiology of sinoatrial node origin; Abnormal eyebrow morphology; Abnormal hair whorl; Abnormal trabecular bone morphology; Abnormality of circulating leptin level; Abnormality of retinal pigmentation; Abnormality of the Achilles tendon; Abnormality of the cerebral vasculature; Abnormality of the foot; Abnormality of the intrahepatic bile duct; Abnormality of the nail; Abnormality of the pinna; Abnormality of the pulmonary artery; Abnormality of the testis; Abnormality of the voice; Absence of pubertal development; Absence of subcutaneous fat; Absent eyebrow; Absent eyelashes; Acanthosis nigricans; Accelerated atherosclerosis; Achilles tendon contracture; Acroosteolysis of distal phalanges (feet); Acute pancreatitis; Adipose tissue loss; Adrenal hypoplasia; Advanced eruption of teeth; Alopecia; Alopecia universalis; Aminoaciduria; Angina pectoris; Aortic atherosclerosis; Aortic root aneurysm; Aortic valve calcification; Aortic valve stenosis; Aplasia of the middle phalanx of the hand; Aplasia of the phalanges of the 3rd toe; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Areflexia; Arrhythmia; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atherosclerosis; Atrial arrhythmia; Atrial fibrillation; Atrial flutter; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Axonal degeneration/regeneration; Basal cell carcinoma; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brachydactyly; Bradycardia; Broad-based gait; Calcinosis; Calf muscle hypertrophy; Choanal atresia; Chondrocalcinosis; Clinodactyly; Congenital muscular dystrophy; Congenital pseudoarthrosis of the clavicle; Congestive heart failure; Convex nasal ridge; Coronary artery atherosclerosis; Craniofacial disproportion; Cyanosis; Decreased adiponectin level; Decreased calvarial ossification; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Decreased circulating high-density lipoprotein levels; Decreased fertility; Decreased fetal movement; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum leptin; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Delayed puberty; Dental crowding; Dermal atrophy; Dermal translucency; Diabetes mellitus; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Downslanted palpebral fissures; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Emphysema; Enlarged peripheral nerve; Entropion; Epidermal hyperkeratosis; Failure to thrive; Fasting hyperinsulinemia; Fatiguable weakness of proximal limb muscles; Feeding difficulties; Flexion contracture; Foot dorsiflexor weakness; Fragile nails; Full cheeks; Gait disturbance; Generalized amyotrophy; Generalized hyperkeratosis; Generalized lipodystrophy; Generalized osteoporosis; Global developmental delay; Glucose intolerance; Glycosuria; Growth delay; Hepatic steatosis; Hepatomegaly; Heterogeneous; High palate; High pitched voice; Hirsutism; Hydropic placenta; Hypercholesterolemia; Hyperglycemia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperkeratosis; Hyperlipidemia; Hyperlordosis; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypertension; Hypertriglyceridemia; Hypodontia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hyporeflexia; Hypospadias; Hypotrichosis; Increased adipose tissue around the neck; Increased anterioposterior diameter of thorax; Increased facial adipose tissue; Increased intraabdominal fat; Increased intramuscular fat; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intervertebral disc degeneration; Intracranial hemorrhage; Intrauterine growth retardation; Joint stiffness; Juvenile onset; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Labial pseudohypertrophy; Lack of skin elasticity; Large fontanelles; Laryngomalacia; Limb muscle weakness; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Limitation of joint mobility; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Malar flattening; Meningioma; Metaphyseal widening; Micrognathia; Midface retrusion; Mildly elevated creatine phosphokinase; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve calcification; Motor delay; Mottled pigmentation; Multiple joint contractures; Muscle hypertrophy of the lower extremities; Muscular dystrophy; Muscular hypotonia; Myalgia; Myocardial infarction; Myopathy; Nail dysplasia; Narrow face; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Neck muscle weakness; Neoplasm of the breast; Neoplasm of the lung; Neoplasm of the oral cavity; Neoplasm of the skin; Neoplasm of the small intestine; Neoplasm of the thyroid gland; Onion bulb formation; Onset; Osteoarthritis; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Osteosarcoma; Ovarian neoplasm; Overtubulated long bones; Ovoid vertebral bodies; Papillary renal cell carcinoma; Patchy hypo- and hyperpigmentation; Patent ductus arteriosus; Pelvic girdle amyotrophy; Pelvic girdle muscle weakness; Pericardial effusion; Peripheral arterial stenosis; Peripheral axonal atrophy; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Pili torti; Polycystic ovaries; Polyhydramnios; Poor head control; Postnatal growth retardation; Precocious atherosclerosis; Precocious puberty; Premature arteriosclerosis; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature ovarian insufficiency; Premature rupture of membranes; Premature skin wrinkling; Progeroid facial appearance; Progressive; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Prominent superficial veins; Proptosis; Proximal muscle weakness; Proximal muscle weakness in upper limbs; Proximal upper limb muscle hypertrophy; Ptosis; Pulmonary carcinoid tumor; Pulmonary hypoplasia; Reduced subcutaneous adipose tissue; Renal neoplasm; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Reticulated skin pigmentation; Retinal degeneration; Retrognathia; Rocker bottom foot; Round face; Scaling skin; Scapular winging; Scleroderma; Sclerosis of hand bone; Secondary amenorrhea; Sensorineural hearing impairment; Severe muscular hypotonia; Short clavicles; Short distal phalanx of finger; Short nail; Short palm; Short palpebral fissure; Short stature; Short umbilical cord; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Skin erosion; Skin ulcer; Slow progression; Small placenta; Sparse and thin eyebrow; Sparse body hair; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Sparse scalp hair; Spinal rigidity; Squamous cell carcinoma of the skin; Steppage gait; Stiff skin; Stillbirth; Structural foot deformity; Subcutaneous calcification; Submucous cleft hard palate; Sudden cardiac death; Supraventricular arrhythmia; Syncope; Syndactyly; Talipes; Tapering pointed ends of distal finger phalanges; Telangiectasia of the skin; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Type II diabetes mellitus; Upper limb muscle weakness; Ureteral duplication; Variable expressivity; Ventricular arrhythmia; Ventricular hypertrophy; White forelock; Wide nasal bridge; Widely patent fontanelles and sutures; Wormian bones; X-linked inheritance; XanthomatosisHeterotaxy ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
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
MAP2K115q22.31100%gene with protein product176872PRKMK1Abnormal bleeding; Abnormal heart valve morphology; Abnormality of the palpebral fissures; Abnormality of the ulna; Abnormality of vision; Amegakaryocytic thrombocytopenia; Anteverted nares; Aplasia/Hypoplasia of the eyebrow; Atrial septal defect; Autosomal dominant inheritance; Biparietal narrowing; Brachydactyly; Brittle hair; Cavernous hemangioma; Clinodactyly; Coarctation of aorta; Coarse facial features; Cryptorchidism; Cubitus valgus; Curly hair; Cystic hygroma; Deep palmar crease; Dental malocclusion; Depressed nasal bridge; Downslanted palpebral fissures; Dry skin; Dystrophic fingernails; EEG abnormality; Epicanthus; Excessive wrinkled skin; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Generalized hyperpigmentation; Global developmental delay; Heat intolerance; Heterogeneous; High forehead; High palate; High, narrow palate; Hyperextensible skin; Hyperhidrosis; Hyperkeratosis pilaris; Hypertelorism; Hypertrophic cardiomyopathy; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Kyphoscoliosis; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Macrotia; Male infertility; Micrognathia; Multiple cafe-au-lait spots; Multiple lentigines; Muscular hypotonia; Myopia; Neurofibrosarcoma; Nystagmus; Palmoplantar keratoderma; Patent ductus arteriosus; Pectus excavatum; Pectus excavatum of inferior sternum; Postnatal growth retardation; Premature birth; Ptosis; Pulmonic stenosis; Radial deviation of finger; Reduced bone mineral density; Reduced factor XII activity; Reduced factor XIII activity; Scoliosis; Seizures; Sensorineural hearing impairment; Shield chest; Short neck; Short nose; Short stature; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Strabismus; Superior pectus carinatum; Synovitis; Thickened helices; Triangular face; Underdeveloped supraorbital ridges; Ventricular septal defect; Webbed neck; Wide mouth
MAPT17q21.31100%gene with protein product157140DDPAC, MAPTLAbnormal brain FDG positron emission tomography; Abnormal pyramidal signs; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Akinesia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Axial dystonia; Blurred vision; Bradykinesia; Collectionism; Dementia; Depressivity; Diplopia; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Echolalia; EEG with continuous slow activity; Emotional blunting; Eyelid apraxia; Falls; Frontal lobe dementia; Frontolimbic dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait imbalance; Gliosis; Grammar-specific speech disorder; Granulovacuolar degeneration; Heterogeneous; Hyperorality; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Kyphoscoliosis; Lack of insight; Language impairment; Loss of speech; Memory impairment; Morphological abnormality of the pyramidal tract; Mutism; Neurofibrillary tangles; Neuronal loss in central nervous system; Ophthalmoparesis; Parkinsonism; Perseveration; Personality changes; Photophobia; Polyphagia; Poor speech; Primitive reflex; Restlessness; Restrictive behavior; Retrocollis; Rigidity; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Supranuclear gaze palsy; Temporal cortical atrophy; Thickened nuchal skin fold; Tremor
MAPT17q21.31100%gene with protein product157140DDPAC, MAPTLAbnormal brain FDG positron emission tomography; Abnormal pyramidal signs; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Akinesia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Axial dystonia; Blurred vision; Bradykinesia; Collectionism; Dementia; Depressivity; Diplopia; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Echolalia; EEG with continuous slow activity; Emotional blunting; Eyelid apraxia; Falls; Frontal lobe dementia; Frontolimbic dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait imbalance; Gliosis; Grammar-specific speech disorder; Granulovacuolar degeneration; Heterogeneous; Hyperorality; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Kyphoscoliosis; Lack of insight; Language impairment; Loss of speech; Memory impairment; Morphological abnormality of the pyramidal tract; Mutism; Neurofibrillary tangles; Neuronal loss in central nervous system; Ophthalmoparesis; Parkinsonism; Perseveration; Personality changes; Photophobia; Polyphagia; Poor speech; Primitive reflex; Restlessness; Restrictive behavior; Retrocollis; Rigidity; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Supranuclear gaze palsy; Temporal cortical atrophy; Thickened nuchal skin fold; Tremor
MATN32p24.1100%gene with protein product602109Arthralgia; Arthralgia of the hip; Autosomal dominant inheritance; Autosomal recessive inheritance; Bowing of the legs; Broad femoral neck; Coxa vara; Delayed ossification of carpal bones; Delayed tarsal ossification; Disproportionate short-limb short stature; Dysplastic iliac wings; Epiphyseal dysplasia; Flat acetabular roof; Gait disturbance; Genu valgum; Heterogeneous; Hip dysplasia; Hypoplasia of the capital femoral epiphysis; Hypoplastic pubic bone; Irregular epiphyses; Joint stiffness; Limb undergrowth; Limited elbow extension; Lumbar hyperlordosis; Metaphyseal irregularity; Metaphyseal spurs; Metaphyseal widening; Micromelia; Multiple epiphyseal dysplasia; Narrow iliac wings; Osteoarthritis; Ovoid vertebral bodies; Platyspondyly; Posterior rib cupping; Premature osteoarthritis; Short femoral neck; Short long bone; Small epiphyses; Spondyloepimetaphyseal dysplasia; Thoracic hypoplasia; Waddling gait
MBTPS2Xp22.12100%gene with protein product300294KFSDAbnormal morphology of the nasolacrimal system; Abnormal vertebral morphology; Abnormality of the eyelashes; Abnormality of the fingernails; Abnormality of the ribs; Absent eyebrow; Absent eyelashes; Aganglionic megacolon; Alopecia; Alopecia totalis; Anhidrosis; Ankylosis; Blepharitis; Brain atrophy; Carious teeth; Cleft palate; Congenital onset; Conjunctivitis; Convex nasal ridge; Corneal dystrophy; Corneal erosion; Cryptorchidism; Decreased testicular size; Dementia; Developmental regression; Dry skin; Dystrophic fingernails; Ectodermal dysplasia; Ectropion; Eczema; Epidermal acanthosis; Erythema; Erythroderma; Facial erythema; Failure to thrive; Feeding difficulties; Follicular hyperkeratosis; Folliculitis; Global developmental delay; Hearing impairment; Heat intolerance; Hemivertebrae; Heterogeneous; Hydrocephalus; Hyperconvex fingernails; Hyperkeratosis; Hypodontia; Hypohidrosis; Hypoplasia of the bladder; Hypoplasia of the corpus callosum; Hypoplastic fingernail; Hypotrichosis; Ichthyosis; Immunodeficiency; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Iris coloboma; Keratitis; Low-set ears; Microcephaly; Microphthalmia; Multicystic kidney dysplasia; Nail dysplasia; Nail dystrophy; Neonatal death; Oligohydramnios; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic nerve hypoplasia; Palmoplantar hyperhidrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papule; Parakeratosis; Perifollicular fibrosis; Photophobia; Plagiocephaly; Postaxial hand polydactyly; Protruding ear; Recurrent bacterial infections; Recurrent corneal erosions; Recurrent respiratory infections; Renal dysplasia; Renal hypoplasia; Scaling skin; Scarring alopecia of scalp; Scoliosis; Seizures; Sensorineural hearing impairment; Short stature; Skin fissure; Skin ulcer; Sparse and thin eyebrow; Sparse eyelashes; Specific learning disability; Subungual hyperkeratosis; Thin eyebrow; Thin fingernail; Umbilical hernia; Unilateral chest hypoplasia; Unilateral renal agenesis; Variable expressivity; Ventriculomegaly; Vesicoureteral reflux; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
MCCC13q27.1100%gene with protein product609010Abnormality of leucine metabolism; Abnormality of movement; Acute hepatic steatosis; Acute hyperammonemia; Autosomal recessive inheritance; Coma; Episodic metabolic acidosis; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Heterogeneous; Hyperammonemia; Hyperreflexia; Hypoglycemia; Intellectual disability; Ketonuria; Lethargy; Muscular hypotonia; Opisthotonus; Organic aciduria; Phenotypic variability; Seizures; Vomiting
MCCC25q13.2100%gene with protein product609014Abnormality of leucine metabolism; Abnormality of movement; Acute hyperammonemia; Alopecia; Autosomal recessive inheritance; Coma; Failure to thrive; Failure to thrive in infancy; Feeding difficulties; Generalized hypotonia; Global developmental delay; Heterogeneous; Hyperammonemia; Hyperglycinuria; Hyperreflexia; Hypoglycemia; Intellectual disability; Ketoacidosis; Lethargy; Metabolic acidosis; Muscular hypotonia; Opisthotonus; Organic aciduria; Phenotypic variability; Propionyl-CoA carboxylase deficiency; Seborrheic dermatitis; Seizures; Skeletal muscle atrophy; Vomiting
MET7q31100%gene with protein product164860Abdominal pain; Autosomal dominant inheritance; Autosomal recessive inheritance; Elevated alpha-fetoprotein; Epigastric pain; Fatigue; Hepatic fibrosis; Hepatic necrosis; Hepatocellular carcinoma; Hepatomegaly; Heterogeneous; Incomplete penetrance; Micronodular cirrhosis; Papillary renal cell carcinoma; Portal vein thrombosis; Somatic mutation; Subacute progressive viral hepatitis; Vomiting
MID1Xp22100%gene with protein product300552Abnormal heart morphology; Abnormality of the nasopharynx; Agenesis of corpus callosum; Anal atresia; Anteverted nares; Aspiration; Cleft palate; Cleft upper lip; Cryptorchidism; Dysphagia; Esophageal atresia; Frontal bossing; Gastroesophageal reflux; Global developmental delay; Heterogeneous; High palate; Hypertelorism; Hypospadias; Posterior pharyngeal cleft; Prominent forehead; Smooth philtrum; Telecanthus; Thin upper lip vermilion; Tracheoesophageal fistula; Wide nasal bridge; X-linked recessive inheritanceVACTERL Association
MITF3p13100%gene with protein product156845WS2A, WS2Abnormal anterior chamber morphology; Abnormality of the hair; Abnormality of the lymphatic system; Albinism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Blue irides; Coloboma; Congenital sensorineural hearing impairment; Dry skin; Freckling; Frontal bossing; Generalized hypopigmentation; Generalized hypotonia; Giant melanosomes in melanocytes; Hearing impairment; Heterochromia iridis; Heterogeneous; Hypermetropia; Hypopigmentation of hair; Hypopigmentation of the fundus; Hypopigmentation of the skin; Hypopigmented skin patches; Hypoplasia of the fovea; Hypoplastic iris stroma; Macrocephaly; Melanoma; Micrognathia; Multiple lentigines; Nevus; Nystagmus; Ocular albinism; Optic nerve dysplasia; Osteopetrosis; Partial albinism; Photophobia; Posteriorly rotated ears; Preauricular pit; Premature graying of hair; Reduced visual acuity; Sensorineural hearing impairment; Shallow orbits; Strabismus; Synophrys; Underdeveloped nasal alae; Variable expressivity; Vestibular hypofunction; Visual impairment; White eyebrow; White eyelashes; White forelock; Wide nasal bridge; X-linked inheritanceAlbinism ; Waardenburg Syndrome
MLPH2q37.3100%gene with protein product606526Autosomal recessive inheritance; Heterogeneous; Hypopigmentation of hair; Large clumps of pigment irregularly distributed along hair shaft; Silver-gray hair; White eyelashesAlbinism ; Palmoplantar keratoderma plus congenital ichthyosis
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
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
MRPS1610q22.2100%gene with protein product609204Abnormal facial shape; Agenesis of corpus callosum; Autosomal recessive inheritance; Brachydactyly; Congenital onset; Edema; Elevated hepatic transaminases; Feeding difficulties in infancy; Heterogeneous; Hypokinesia; Increased serum lactate; Lactic acidosis; Lethargy; Low-set ears; Neonatal hypotonia; Patent ductus arteriosus; Redundant neck skin; Small for gestational age; Ventriculomegaly
MSX25q35.2100%gene with protein product123101PFM1Aplasia cutis congenita of scalp; Autosomal dominant inheritance; Bicoronal synostosis; Brachyturricephaly; Cleft palate; Cleft upper lip; Dermoid cyst; Encephalocele; Frontal bossing; Headache; Heterogeneous; Macrocephaly; Microtia; Parietal foramina; Seizures; Short clavicles; Symmetrical, oval parietal bone defects; Trigonocephaly; Unicoronal synostosis; Widely patent fontanelles and sutures
MTMR211q2199.99%gene with protein product603557CMT4BAbnormal auditory evoked potentials; Autosomal recessive inheritance; Decreased motor nerve conduction velocity; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Facial palsy; Heterogeneous; Irregular myelin loops; Motor delay; Proximal muscle weakness; Scoliosis; Talipes equinovarus
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
MYO7A11q13.599.99%gene with protein product276903USH1B, DFNB2, DFNA11Abnormal cochlea morphology; Abnormal electroretinogram; Absent vestibular function; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Cataract; Congenital onset; Global developmental delay; Hemianopia; Heterogeneous; High hypermetropia; Intellectual disability; Iris hypopigmentation; Motor delay; Myopia; Nyctalopia; Rod-cone dystrophy; Schizophrenia; Scotoma; Sensorineural hearing impairment; Undetectable electroretinogram; Vertigo; Vestibular hypofunction; Visual loss
MYOT5q31.299.92%gene with protein product604103TTID, LGMD1A, LGMD1Absent Achilles reflex; Achilles tendon contracture; Adult onset; Areflexia; Autophagic vacuoles; Autosomal dominant inheritance; Broad-based gait; Cardiomyopathy; Difficulty climbing stairs; Difficulty standing; Distal amyotrophy; Distal muscle weakness; Dysphagia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Heterogeneous; Hip flexor weakness; Hyporeflexia; Hyporeflexia of lower limbs; Inability to walk; Increased endomysial connective tissue; Increased variability in muscle fiber diameter; Late-onset distal muscle weakness; Limited elbow flexion; Limited knee flexion/extension; Muscle fiber cytoplasmatic inclusion bodies; Muscle fiber splitting; Muscle stiffness; Muscular dystrophy; Myalgia; Myofibrillar myopathy; Myopathy; Nasal speech; Nasal, dysarthic speech; Neck flexor weakness; Onset; Pelvic girdle muscle weakness; Polyneuropathy; Progressive distal muscle weakness; Proximal amyotrophy; Proximal muscle weakness; Rimmed vacuoles; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Slow progression; Variable expressivity; Waddling gaitRhabdomyolysis
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 product