XomeDxSlice Tool

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

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Phenotypes
Fatigue

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABL19q34.12100%gene with protein product189980ABLAbnormality of basophils; Fatigue; Fever; Leukocytosis; Myeloproliferative disorder; Poor appetite; Splenomegaly; Thrombocytopenia; Thrombocytosis
AGK7q3499.95%gene with protein product610345MULK3-Methylglutaconic aciduria; Autosomal recessive inheritance; Cataract; Congenital cataract; Easy fatigability; Exercise intolerance; Exercise-induced lactic acidemia; Fatigue; Generalized hypotonia; Glaucoma; Growth delay; Hypertrophic cardiomyopathy; Increased serum lactate; Infantile onset; Lactic acidosis; Mitochondrial myopathy; Motor delay; Muscle weakness; Myopathy; Myopia; Nystagmus; Respiratory insufficiency; Strabismus; Variable expressivity
AIP11q13.2100%gene with protein product605555Abdominal obesity; Abnormal fear/anxiety-related behavior; Abnormal toenail morphology; Abnormality of hair density; Abnormality of the fingernails; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Alkalosis; Amenorrhea; Anterior hypopituitarism; Anxiety; Arthralgia; Autosomal dominant inheritance; Biconcave vertebral bodies; Broad foot; Broad forehead; Broad jaw; Bruising susceptibility; Cardiomyopathy; Cerebral palsy; Coarse facial features; Cortical diaphyseal thickening of the upper limbs; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Deep palmar crease; Deep plantar creases; Depressivity; Diabetes mellitus; Dysmenorrhea; Dyspareunia; Easy fatigability; Edema; Facial erythema; Fatigue; Female hypogonadism; Frontal bossing; Full cheeks; Galactorrhea; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Gynecomastia; Headache; Hirsutism; Hoarse voice; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Impotence; Increased circulating ACTH level; Increased serum insulin-like growth factor 1; Joint swelling; Kyphosis; Large hands; Left ventricular hypertrophy; Long face; Long penis; Macrodactyly; Macroglossia; Macrotia; Male hypogonadism; Mandibular prognathia; Menstrual irregularities; Migraine; Mood changes; Nephrolithiasis; Oligomenorrhea; Osteoarthritis; Osteopenia; Osteoporosis; Pallor; Palpebral edema; Paresthesia; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary hypothyroidism; Pituitary prolactin cell adenoma; Poor wound healing; Progressive visual loss; Prolactin excess; Prolactinoma; Psychotic mentation; Purpura; Secondary growth hormone deficiency; Skeletal muscle atrophy; Sleep apnea; Somatic mutation; Spinal canal stenosis; Striae distensae; Symmetric great toe depigmentation; Synophrys; Tall stature; Tapered finger; Thick lower lip vermilion; Thin skin; Vertebral compression fractures; Vomiting; Wide nose; Widely spaced teethAutoimmune Disorders ; Obesity
AIP11q13.2100%gene with protein product605555Abdominal obesity; Abnormal fear/anxiety-related behavior; Abnormal toenail morphology; Abnormality of hair density; Abnormality of the fingernails; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Alkalosis; Amenorrhea; Anterior hypopituitarism; Anxiety; Arthralgia; Autosomal dominant inheritance; Biconcave vertebral bodies; Broad foot; Broad forehead; Broad jaw; Bruising susceptibility; Cardiomyopathy; Cerebral palsy; Coarse facial features; Cortical diaphyseal thickening of the upper limbs; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Deep palmar crease; Deep plantar creases; Depressivity; Diabetes mellitus; Dysmenorrhea; Dyspareunia; Easy fatigability; Edema; Facial erythema; Fatigue; Female hypogonadism; Frontal bossing; Full cheeks; Galactorrhea; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Gynecomastia; Headache; Hirsutism; Hoarse voice; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Impotence; Increased circulating ACTH level; Increased serum insulin-like growth factor 1; Joint swelling; Kyphosis; Large hands; Left ventricular hypertrophy; Long face; Long penis; Macrodactyly; Macroglossia; Macrotia; Male hypogonadism; Mandibular prognathia; Menstrual irregularities; Migraine; Mood changes; Nephrolithiasis; Oligomenorrhea; Osteoarthritis; Osteopenia; Osteoporosis; Pallor; Palpebral edema; Paresthesia; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary hypothyroidism; Pituitary prolactin cell adenoma; Poor wound healing; Progressive visual loss; Prolactin excess; Prolactinoma; Psychotic mentation; Purpura; Secondary growth hormone deficiency; Skeletal muscle atrophy; Sleep apnea; Somatic mutation; Spinal canal stenosis; Striae distensae; Symmetric great toe depigmentation; Synophrys; Tall stature; Tapered finger; Thick lower lip vermilion; Thin skin; Vertebral compression fractures; Vomiting; Wide nose; Widely spaced teethAutoimmune Disorders ; Obesity
ALAS2Xp11.21100%gene with protein product301300ASBAbnormality of iron homeostasis; Anemia; Childhood onset; Cutaneous photosensitivity; Fatigue; Hypochromic microcytic anemia; Increased erythrocyte protoporphyrin concentration; Macrocytic anemia; Muscle weakness; Pallor; Sideroblastic anemia; Variable expressivity; X-linked dominant inheritance; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes
ALB4q13.3100%gene with protein product103600Autosomal recessive inheritance; Fatigue; Hyperlipidemia; Hypoalbuminemia; Hypotension; Lipodystrophy; OsteoporosisAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia ; VACTERL Association
ANG14q11.2100%gene with protein product105850Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Depressivity; Distal amyotrophy; Distal muscle weakness; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; XerostomiaRhabdomyolysis
ARMC516p11.2100%gene with protein product615549Autosomal dominant inheritance; Bruising susceptibility; Depressivity; Diabetes mellitus; Failure to thrive; Fatigue; Generalized hirsutism; Hyperglycemia; Hypertension; Macronodular adrenal hyperplasia; Menometrorrhagia; Muscle weakness; Nephrolithiasis; Osteoporosis; Round face; Somatic mutation; Thin skin; Truncal obesityObesity
ATM11q22.399.93%gene with protein product607585ATA, ATDC, ATC, ATDAbnormal spermatogenesis; Abnormality of bone marrow cell morphology; Abnormality of chromosome stability; Abnormality of the hair; Anorexia; Aplasia/Hypoplasia of the thymus; Ataxia; Autosomal recessive inheritance; B-cell lymphoma; Bronchiectasis; Cafe-au-lait spot; Cellular immunodeficiency; Choreoathetosis; Conjunctival telangiectasia; Decreased antibody level in blood; Decreased proportion of CD4-positive T cells; Defective B cell differentiation; Delayed puberty; Diabetes mellitus; Dysarthria; Dystonia; Elevated alpha-fetoprotein; Elevated hepatic transaminases; Fatigue; Female hypogonadism; Fever; Gait disturbance; Glucose intolerance; Hodgkin lymphoma; Hypopigmentation of hair; Hypoplasia of the thymus; IgA deficiency; Immunoglobulin IgG2 deficiency; Leukemia; Lymphadenopathy; Lymphopenia; Mucosal telangiectasiae; Myoclonus; Neoplasm; Non-Hodgkin lymphoma; Nystagmus; Polycystic ovaries; Premature graying of hair; Recurrent bronchitis; Recurrent respiratory infections; Reduced tendon reflexes; Seizures; Short stature; Sinusitis; Skeletal muscle atrophy; Spasticity; Splenomegaly; Strabismus; Telangiectasia of the skin; Tremor; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
ATP7AXq21.199.98%gene with protein product300011MNKAbnormal carotid artery morphology; Abnormal peripheral nervous system morphology; Abnormality of the face; Abnormality of the metaphysis; Abnormality of the palate; Abnormality of the sense of smell; Abnormality of the wrist; Aplasia/Hypoplasia of the abdominal wall musculature; Arterial stenosis; Atypical scarring of skin; Behavioral abnormality; Bladder carcinoma; Bladder diverticulum; Brachycephaly; Brachydactyly; Broad clavicles; Broad ribs; Bruising susceptibility; Capitate-hamate fusion; Carotid artery tortuosity; Cerebral calcification; Chronic diarrhea; Coarse hair; Convex nasal ridge; Coxa valga; Cutis laxa; Death in childhood; Delayed cranial suture closure; Developmental regression; Dilatation; Distal amyotrophy; Distal muscle weakness; Dry skin; Dysphagia; EMG: neuropathic changes; Esophagitis; Exostoses; Fatigue; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Gastroparesis; Genu valgum; Global developmental delay; Hepatitis; Hiatus hernia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperextensible skin; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Hypothermia; Inguinal hernia; Intellectual disability; Intracranial hemorrhage; Intrauterine growth retardation; Jaundice; Joint hyperflexibility; Joint laxity; Juvenile onset; Keloids; Kyphosis; Large fontanelles; Limited elbow extension; Limited knee extension; Long face; Long neck; Long philtrum; Malabsorption; Mask-like facies; Metaphyseal spurs; Metaphyseal widening; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Narrow chest; Narrow face; Nausea and vomiting; Orthostatic hypotension; Osteomalacia; Osteopenia; Osteoporosis; Pectus carinatum; Pectus excavatum; Pelvic bone exostoses; Persistent open anterior fontanelle; Pes cavus; Pes planus; Platyspondyly; Poor suck; Prolonged neonatal jaundice; Prominent occiput; Redundant skin; Rickets; Seizures; Short clavicles; Short humerus; Short palm; Short stature; Slow progression; Soft skin; Sparse hair; Spasticity; Specific learning disability; Spinal muscular atrophy; Synostosis of joints; Thickened skin; Umbilical hernia; Unsteady gait; Ureteral obstruction; Venous insufficiency; Woolly hair; Wormian bones; X-linked recessive inheritance
ATRXXq21.199.92%gene with protein product300032, 300504RAD54, JMS, MRX52Abnormal hemoglobin; Abnormality of blood and blood-forming tissues; Abnormality of fontanelles; Abnormality of metabolism/homeostasis; Absent frontal sinuses; Ambiguous genitalia; Anorexia; Anteverted nares; Autism; Brachydactyly; Bruising susceptibility; Cerebral atrophy; Clinodactyly; Coarse facial features; Constipation; Coxa valga; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dolichocephaly; Drooling; Dysphasia; Dyspnea; Epicanthus; Episodic abdominal pain; Everted lower lip vermilion; Exotropia; Fatigue; Flat face; Gastroesophageal reflux; Genu valgum; Global developmental delay; Hemivertebrae; Hemoglobin H; High palate; Hydronephrosis; Hyperactivity; Hyperreflexia; Hypertelorism; Hypochromic microcytic anemia; Hypogonadism; Hypoplasia of penis; Hypoplastic philtrum; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intermittent diarrhea; Iron deficiency anemia; Kyphoscoliosis; Low-set ears; Lower limb hypertonia; Macroglossia; Malar flattening; Male pseudohermaphroditism; Microcephaly; Microcytic anemia; Micrognathia; Micropenis; Microtia; Midface retrusion; Muscular hypotonia; Myelodysplasia; Narrow forehead; Nausea and vomiting; Neutropenia; Open mouth; Optic atrophy; Paroxysmal bursts of laughter; Perimembranous ventricular septal defect; Pes planus; Phenotypic variability; Poor appetite; Posteriorly rotated ears; Postnatal growth retardation; Profound global developmental delay; Protruding tongue; Ptosis; Radial deviation of finger; Reduced alpha/beta synthesis ratio; Renal agenesis; Renal hypoplasia; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Shawl scrotum; Short neck; Short nose; Short stature; Short upper lip; Slender finger; Spasticity; Talipes calcaneovalgus; Talipes equinovarus; Tapered finger; Telecanthus; Tented upper lip vermilion; Thick lower lip vermilion; Thin upper lip vermilion; Thrombocytopenia; Triangular nasal tip; U-Shaped upper lip vermilion; Umbilical hernia; Upslanted palpebral fissure; Vesicoureteral reflux; Vomiting; Weight loss; Wide mouth; Wide nasal bridge; Widely-spaced maxillary central incisors; X-linked dominant inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
ATXN212q24.1299.04%gene with protein productXomeDxSlice is not appropriate.601517SCA2, TNRC13Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Bradykinesia; Dementia; Depressivity; Dilated fourth ventricle; Distal amyotrophy; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmetric saccades; Dysphagia; Dyspnea; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Gaze-evoked nystagmus; Generalized hypotonia; Generalized muscle weakness; Genetic anticipation; Hyporeflexia; Impaired horizontal smooth pursuit; Impaired vibratory sensation; Limb ataxia; Muscle cramps; Myoclonus; Neurodegeneration; Oculomotor apraxia; Olivopontocerebellar atrophy; Ophthalmoplegia; Pain; Paralysis; Postural instability; Postural tremor; Progressive cerebellar ataxia; Respiratory failure; Rigidity; Rod-cone dystrophy; Skeletal muscle atrophy; Slow saccadic eye movements; Spasticity; Spinocerebellar tract degeneration; Urinary bladder sphincter dysfunction; Xerostomia
BCL101p22.3100%gene with protein product603517Anemia; Autosomal recessive inheritance; B-cell lymphoma; Constipation; Decreased antibody level in blood; Encephalitis; Fatigue; Fever; Gastric lymphoma; Hyperhidrosis; Immunodeficiency; Infantile onset; Nausea and vomiting; Pulmonary infiltrates; Recurrent infections; Seizures; Weight loss
BCL218q21.3381.16%gene with protein product151430Fatigue; Fever; Lymphoma; Mediastinal lymphadenopathy; Night sweats; Splenomegaly; Weight loss
BCL63q27.3100%gene with protein product109565ZNF51Fatigue; Fever; Lymphoma; Mediastinal lymphadenopathy; Night sweats; Splenomegaly; Weight loss
BCR22q11.2399.83%gene with protein product151410D22S11, BCR1Abnormality of basophils; Abnormality of earlobe; Absent fingernail; Absent toenail; Acute lymphoblastic leukemia; Chronic myelogenous leukemia; Clinodactyly of the 5th finger; Deeply set eye; Fatigue; Fever; Global developmental delay; Highly arched eyebrow; Intellectual disability; Intrauterine growth retardation; Language impairment; Leukocytosis; Microcephaly; Myeloproliferative disorder; Neoplasm; Pes planus; Ph-positive acute lymphoblastic leukemia; Pointed chin; Polygenic inheritance; Poor appetite; Premature birth; Short stature; Smooth philtrum; Somatic mutation; Splenomegaly; Thin upper lip vermilion; Thrombocytopenia; Thrombocytosis; Truncus arteriosus; Underdeveloped nasal alae
BIRC311q22.299.94%gene with protein product601721API2Anemia; B-cell lymphoma; Constipation; Fatigue; Fever; Hyperhidrosis; Nausea and vomiting; Pulmonary infiltrates; Weight loss
BLNK10q24.1100%gene with protein product604515Agammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Neutropenia; Osteomyelitis; Recurrent bacterial infections; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
BTKXq22.199.99%gene with protein product300300AGMX1, IMD1Abnormality of the tonsils; Agammaglobulinemia; Arthritis; Cellulitis; Chronic diarrhea; Chronic otitis media; Conjunctivitis; Cor pulmonale; Delayed skeletal maturation; Delayed speech and language development; Diarrhea; Encephalitis; Enteroviral dermatomyositis syndrome; Enteroviral hepatitis; Epididymitis; Failure to thrive; Fatigue; Fever; Glossoptosis; Growth hormone deficiency; Hearing impairment; Hypocalcemia; Immunodeficiency; Lymph node hypoplasia; Meningitis; Neoplasm; Neutropenia; Otitis media; Panhypogammaglobulinemia; Pneumonia; Prostatitis; Pyoderma; Recurrent bacterial infections; Recurrent cutaneous abscess formation; Recurrent enteroviral infections; Recurrent pneumonia; Recurrent urinary tract infections; Sensorineural hearing impairment; Sepsis; Septic arthritis; Short stature; Sinusitis; Skin rash; Skin ulcer; X-linked recessive inheritanceAutoimmune Disorders ; Inflammatory Bowel Disease ; Primary Immunodeficiency
BTNL26p21.32gene with protein product606000Chest pain; Cough; Dyspnea; Erythema nodosum; Fatigue; Fever; Increase in T cell count; Joint swelling; Leukopenia; Thrombocytopenia; Uveitis; Weight loss
C21ORF221q22.3100%gene with protein product603191CFAP410Amyotrophic lateral sclerosis; Anterior rib cupping; Anxiety; Autosomal recessive inheritance; Coxa vara; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Narrow greater sacrosciatic notches; Neurodegeneration; Nystagmus; Optic atrophy; Pain; Paralysis; Platyspondyly; Proximal femoral metaphyseal irregularity; Recurrent pneumonia; Respiratory failure; Rod-cone dystrophy; Short femoral neck; Short stature; Skeletal muscle atrophy; Spasticity; Spondylometaphyseal dysplasia; Thoracic hypoplasia; XerostomiaObesity
C4A6p21.330 %gene with protein productLocated in the Chr 6 MHC Region120810Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Autosomal recessive inheritance; Complement deficiency; Confusion; Cutaneous photosensitivity; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Glomerulonephritis; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Purpura; Recurrent aphthous stomatitis; Subcutaneous nodule; Systemic lupus erythematosus; Vasculitis; Venous thrombosisHemolytic Anemia
C9ORF729p21.299.97%gene with protein productXomeDxSlice is not appropriate.614260Abnormal brain FDG positron emission tomography; Abnormal lower motor neuron morphology; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Cerebral atrophy; Collectionism; Delusions; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Echolalia; EEG with continuous slow activity; Emotional blunting; Emotional lability; Extrapyramidal dyskinesia; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontotemporal cerebral atrophy; Frontotemporal dementia; Generalized muscle weakness; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Muscle cramps; Muscle weakness; Neurodegeneration; Neuronal loss in central nervous system; Pain; Paralysis; Paraparesis; Parkinsonism; Perseveration; Personality changes; Poor speech; Rapidly progressive; Respiratory failure; Restlessness; Restrictive behavior; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Tetraparesis; Thickened nuchal skin fold; Xerostomia
CCND111q13.3100%gene with protein product168461BCL1, D11S287E, PRAD1Abnormality of bone marrow cell morphology; Acute kidney injury; Anemia; Anorexia; B-cell lymphoma; Bone pain; Decreased antibody level in blood; Elevated serum creatinine; Fatigue; Fever; Generalized muscle weakness; Hyperproteinemia; Increased IgG level; Lymphadenopathy; Nephropathy; Nephrotic syndrome; Osteopenia; Pathologic fracture; Splenomegaly; Weight loss
CCND111q13.3100%gene with protein product168461BCL1, D11S287E, PRAD1Abnormality of bone marrow cell morphology; Acute kidney injury; Anemia; Anorexia; B-cell lymphoma; Bone pain; Decreased antibody level in blood; Elevated serum creatinine; Fatigue; Fever; Generalized muscle weakness; Hyperproteinemia; Increased IgG level; Lymphadenopathy; Nephropathy; Nephrotic syndrome; Osteopenia; Pathologic fracture; Splenomegaly; Weight loss
CCNF16p13.399.98%gene with protein product600227Amyotrophic lateral sclerosis; Anxiety; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
CCR13p21.31100%gene with protein product601159SCYAR1, CMKBR1Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
CD79A19q13.299.5%gene with protein product112205IGAAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Osteomyelitis; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
CD79B17q23.3100%gene with protein product147245IGBAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Chronic sinusitis; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Osteomyelitis; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders ; Common Variable Immune Deficiency
CDC731q31.2100%gene with protein productFormer name = HRPT2607393C1orf28, HRPT2, HRPT1Autosomal dominant inheritance; Chondrocalcinosis; Dysphagia; Elevated circulating parathyroid hormone level; Fatigue; Fibroma; Generalized osteoporosis; Hoarse voice; Hypercalcemia; Hypercalciuria; Hyperparathyroidism; Hyperphosphaturia; Hypophosphatemia; Infantile hypercalcemia; Nephrocalcinosis; Nephrolithiasis; Osteopenia; Osteoporosis; Parathyroid adenoma; Parathyroid carcinoma; Polydipsia; Primary hyperparathyroidism; Shortened QT interval; Somatic mutation; Uterine leiomyoma; Weight loss
CDC731q31.2100%gene with protein productFormer name = HRPT2607393C1orf28, HRPT2, HRPT1Autosomal dominant inheritance; Chondrocalcinosis; Dysphagia; Elevated circulating parathyroid hormone level; Fatigue; Fibroma; Generalized osteoporosis; Hoarse voice; Hypercalcemia; Hypercalciuria; Hyperparathyroidism; Hyperphosphaturia; Hypophosphatemia; Infantile hypercalcemia; Nephrocalcinosis; Nephrolithiasis; Osteopenia; Osteoporosis; Parathyroid adenoma; Parathyroid carcinoma; Polydipsia; Primary hyperparathyroidism; Shortened QT interval; Somatic mutation; Uterine leiomyoma; Weight loss
CDH2310q22.1100%gene with protein product605516DFNB12, USH1DAbnormal cochlea morphology; Abnormal electroretinogram; Abnormality of hair density; Abnormality of the eye; Abnormality of the menstrual cycle; Acne; Adrenal hyperplasia; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Amenorrhea; Anxiety; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Bruising susceptibility; Cataract; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Depressivity; Diabetes mellitus; Dyspareunia; Easy fatigability; Enlarged pituitary gland; Failure to thrive; Fatigue; Female hypogonadism; Galactorrhea; Generalized hirsutism; Global developmental delay; Goiter; Gynecomastia; Headache; Hearing impairment; Hemianopia; High hypermetropia; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Immunodeficiency; Impotence; Increased thyroid-stimulating hormone level; Infertility; Intellectual disability; Iris hypopigmentation; Lipodystrophy; Male hypogonadism; Menorrhagia; Metrorrhagia; Nephrolithiasis; Nyctalopia; Osteopenia; Osteoporosis; Pallor; Palpitations; Pituitary adenoma; Pituitary hypothyroidism; Prelingual sensorineural hearing impairment; Progressive visual loss; Recurrent fractures; Rod-cone dystrophy; Round face; Schizophrenia; Scotoma; Secondary growth hormone deficiency; Sensorineural hearing impairment; Thin skin; Thyroid crisis; Tremor; Truncal obesity; Vestibular dysfunction; Vestibular hypofunction; Visual loss; Vomiting; Weight loss
CDH2310q22.1100%gene with protein product605516DFNB12, USH1DAbnormal cochlea morphology; Abnormal electroretinogram; Abnormality of hair density; Abnormality of the eye; Abnormality of the menstrual cycle; Acne; Adrenal hyperplasia; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Amenorrhea; Anxiety; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Bruising susceptibility; Cataract; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Depressivity; Diabetes mellitus; Dyspareunia; Easy fatigability; Enlarged pituitary gland; Failure to thrive; Fatigue; Female hypogonadism; Galactorrhea; Generalized hirsutism; Global developmental delay; Goiter; Gynecomastia; Headache; Hearing impairment; Hemianopia; High hypermetropia; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Immunodeficiency; Impotence; Increased thyroid-stimulating hormone level; Infertility; Intellectual disability; Iris hypopigmentation; Lipodystrophy; Male hypogonadism; Menorrhagia; Metrorrhagia; Nephrolithiasis; Nyctalopia; Osteopenia; Osteoporosis; Pallor; Palpitations; Pituitary adenoma; Pituitary hypothyroidism; Prelingual sensorineural hearing impairment; Progressive visual loss; Recurrent fractures; Rod-cone dystrophy; Round face; Schizophrenia; Scotoma; Secondary growth hormone deficiency; Sensorineural hearing impairment; Thin skin; Thyroid crisis; Tremor; Truncal obesity; Vestibular dysfunction; Vestibular hypofunction; Visual loss; Vomiting; Weight loss
CDH2310q22.1100%gene with protein product605516DFNB12, USH1DAbnormal cochlea morphology; Abnormal electroretinogram; Abnormality of hair density; Abnormality of the eye; Abnormality of the menstrual cycle; Acne; Adrenal hyperplasia; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Amenorrhea; Anxiety; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal recessive inheritance; Bruising susceptibility; Cataract; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Depressivity; Diabetes mellitus; Dyspareunia; Easy fatigability; Enlarged pituitary gland; Failure to thrive; Fatigue; Female hypogonadism; Galactorrhea; Generalized hirsutism; Global developmental delay; Goiter; Gynecomastia; Headache; Hearing impairment; Hemianopia; High hypermetropia; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Immunodeficiency; Impotence; Increased thyroid-stimulating hormone level; Infertility; Intellectual disability; Iris hypopigmentation; Lipodystrophy; Male hypogonadism; Menorrhagia; Metrorrhagia; Nephrolithiasis; Nyctalopia; Osteopenia; Osteoporosis; Pallor; Palpitations; Pituitary adenoma; Pituitary hypothyroidism; Prelingual sensorineural hearing impairment; Progressive visual loss; Recurrent fractures; Rod-cone dystrophy; Round face; Schizophrenia; Scotoma; Secondary growth hormone deficiency; Sensorineural hearing impairment; Thin skin; Thyroid crisis; Tremor; Truncal obesity; Vestibular dysfunction; Vestibular hypofunction; Visual loss; Vomiting; Weight loss
CHCHD1022q11.2398.57%gene with protein product615903C22orf16Amyotrophic lateral sclerosis; Anxiety; Areflexia; Ataxia; Autosomal dominant inheritance; Babinski sign; Bulbar palsy; Depressivity; Difficulty walking; Dysarthria; Dysphagia; Dyspnea; Elevated serum creatine phosphokinase; Emotional lability; Exercise intolerance; Facial palsy; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal lobe dementia; Frontotemporal dementia; Generalized muscle weakness; Hammertoe; Hyporeflexia; Increased serum lactate; Muscle cramps; Neck flexor weakness; Neurodegeneration; Pain; Paralysis; Pes cavus; Pes planus; Progressive; Proximal muscle weakness in lower limbs; Respiratory failure; Short stature; Skeletal muscle atrophy; Slow progression; Spasticity; Spinal muscular atrophy; Xerostomia
CHMP2B3p11.2100%gene with protein product609512Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Areflexia; Astrocytosis; Autosomal dominant inheritance; Babinski sign; Bulbar signs; Cerebral cortical atrophy; Collectionism; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal release signs; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Grammar-specific speech disorder; Hyperorality; Hyperreflexia; Hyporeflexia; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Muscle cramps; Mutism; Myoclonus; Neurodegeneration; Neuronal loss in central nervous system; Orofacial dyskinesia; Pain; Paralysis; Perseveration; Personality changes; Poor speech; Rapidly progressive; Respiratory failure; Respiratory insufficiency due to muscle weakness; Restlessness; Restrictive behavior; Rigidity; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Xerostomia
CPT1A11q13.3100%gene with protein product600528CPT1Arrhythmia; Autosomal recessive inheritance; Behavioral abnormality; Cardiomegaly; Coma; Diarrhea; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Fatigue; Feeding difficulties in infancy; Generalized hypotonia; Hemiplegia/hemiparesis; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hyperammonemia; Hypoglycemia; Hypoketotic hypoglycemia; Lethargy; Loss of consciousness; Muscular hypotonia; Neurological speech impairment; Prenatal maternal abnormality; Recurrent encephalopathy; Reduced tendon reflexes; Renal tubular acidosis; Seizures; Skeletal muscle atrophy; Transient hyperlipidemiaRhabdomyolysis
CPT21p32.3100%gene with protein product600650CPT1Abnormality of nervous system morphology; Abnormality of the foot; Agenesis of corpus callosum; Antenatal intracerebral hemorrhage; Apnea; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia cysts; Bulbous nose; Cardiomegaly; Cardiomyopathy; Cataract; Coma; Decreased plasma free carnitine; Decreased plasma total carnitine; Dilated cardiomyopathy; Elbow flexion contracture; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Elevated serum long-chain fatty acids; Enlarged kidney; Fatigue; Feeding difficulties in infancy; Hepatic calcification; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperammonemia; Hypoketotic hypoglycemia; Hypoplastic toenails; Increased muscle lipid content; Increased total bilirubin; Infantile onset; Intracerebral periventricular calcifications; Knee flexion contracture; Lethargy; Long toe; Long-chain dicarboxylic aciduria; Low-set ears; Macrovesicular hepatic steatosis; Microcephaly; Multicystic kidney dysplasia; Muscle cramps; Muscle stiffness; Muscle weakness; Muscular hypotonia; Myalgia; Myoglobinuria; Myopathy; Narrow palate; Nausea and vomiting; Neonatal hypotonia; Nonketotic hypoglycemia; Overfolded helix; Polycystic kidney dysplasia; Polymicrogyria; Posteriorly rotated ears; Prominent forehead; Renal insufficiency; Respiratory arrest; Respiratory distress; Respiratory failure; Respiratory insufficiency; Rhabdomyolysis; Seizures; Sloping forehead; Tapered finger; Tapered toe; Ureteral duplication; Ventriculomegaly; Vomiting; Wide intermamillary distanceRhabdomyolysis
CPT21p32.3100%gene with protein product600650CPT1Abnormality of nervous system morphology; Abnormality of the foot; Agenesis of corpus callosum; Antenatal intracerebral hemorrhage; Apnea; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia cysts; Bulbous nose; Cardiomegaly; Cardiomyopathy; Cataract; Coma; Decreased plasma free carnitine; Decreased plasma total carnitine; Dilated cardiomyopathy; Elbow flexion contracture; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Elevated serum long-chain fatty acids; Enlarged kidney; Fatigue; Feeding difficulties in infancy; Hepatic calcification; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperammonemia; Hypoketotic hypoglycemia; Hypoplastic toenails; Increased muscle lipid content; Increased total bilirubin; Infantile onset; Intracerebral periventricular calcifications; Knee flexion contracture; Lethargy; Long toe; Long-chain dicarboxylic aciduria; Low-set ears; Macrovesicular hepatic steatosis; Microcephaly; Multicystic kidney dysplasia; Muscle cramps; Muscle stiffness; Muscle weakness; Muscular hypotonia; Myalgia; Myoglobinuria; Myopathy; Narrow palate; Nausea and vomiting; Neonatal hypotonia; Nonketotic hypoglycemia; Overfolded helix; Polycystic kidney dysplasia; Polymicrogyria; Posteriorly rotated ears; Prominent forehead; Renal insufficiency; Respiratory arrest; Respiratory distress; Respiratory failure; Respiratory insufficiency; Rhabdomyolysis; Seizures; Sloping forehead; Tapered finger; Tapered toe; Ureteral duplication; Ventriculomegaly; Vomiting; Wide intermamillary distanceRhabdomyolysis
CTLA42q33.2100%gene with protein product123890CELIAC3, IDDM12Abdominal pain; Abnormal lymphocyte morphology; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Alopecia; Arthralgia; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Cerebral ischemia; Chest pain; Chronic obstructive pulmonary disease; Cough; Cutaneous T-cell lymphoma; Decreased antibody level in blood; Diarrhea; Dry skin; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Erythema; Erythroderma; Fatigue; Fever; Glomerulopathy; Granulomatosis; Hematuria; Hemoptysis; Hepatomegaly; Hypopigmented skin patches; Immunodeficiency; Incomplete penetrance; Inflammatory abnormality of the eye; Irregular hyperpigmentation; Lichenification; Lymphadenopathy; Nail dystrophy; Nausea and vomiting; Neoplasm of the skin; Palmoplantar keratoderma; Papule; Periorbital edema; Poikiloderma; Proteinuria; Pruritus; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Sinusitis; Skin plaque; Skin rash; Splenomegaly; Vasculitis; Weight lossAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
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
DAO12q24.11100%gene with protein product124050Amyotrophic lateral sclerosis; Anxiety; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
DCTN12p13.1100%gene with protein product601143Abnormal lower motor neuron morphology; Abnormality of metabolism/homeostasis; Adult onset; Amyotrophic lateral sclerosis; Anxiety; Apathy; Autosomal dominant inheritance; Bradykinesia; Central hypoventilation; Depressivity; Distal amyotrophy; Distal muscle weakness; Dysarthria; Dyspnea; Emotional lability; Facial palsy; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Hand muscle atrophy; Hand muscle weakness; Hypoventilation; Inappropriate behavior; Insomnia; Lower limb muscle weakness; Mask-like facies; Muscle cramps; Neurodegeneration; Pain; Paralysis; Parkinsonism; Rapidly progressive; Respiratory failure; Respiratory insufficiency; Rigidity; Short stepped shuffling gait; Skeletal muscle atrophy; Sleep disturbance; Slow progression; Spasticity; Tremor; Vertical supranuclear gaze palsy; Vocal cord paralysis; Weak voice; Weight loss; Xerostomia
DDB211p11.2100%gene with protein product600811Abnormality of the dentition; Arthralgia; Autosomal recessive inheritance; Basal cell carcinoma; Cataract; Cognitive impairment; Conjunctival telangiectasia; Conjunctivitis; Cryptorchidism; Cutaneous photosensitivity; Defective DNA repair after ultraviolet radiation damage; Dermal atrophy; Developmental regression; Dry skin; Ectropion; EEG abnormality; Entropion; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Hyperkeratosis; Hypermelanotic macule; Hypogonadism; Hypopigmented skin patches; Intellectual disability, progressive; Keratitis; Melanoma; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Sensorineural hearing impairment; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin
DMDXp21.2-p21.199.94%gene with protein product300377MRX85Abnormal urinary color; Adult onset; Arrhythmia; Calf muscle hypertrophy; Calf muscle pseudohypertrophy; Cardiomyopathy; Childhood onset; Cognitive impairment; Congestive heart failure; Delayed speech and language development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Falls; Fatigue; Flexion contracture; Generalized hypotonia; Global developmental delay; Gowers sign; Hyperlordosis; Hyporeflexia; Hypoventilation; Intellectual disability; Intellectual disability, mild; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Myalgia; Myoglobinuria; Progressive muscle weakness; Proximal muscle weakness; Respiratory failure; Respiratory insufficiency; Scoliosis; Skeletal muscle atrophy; Specific learning disability; Waddling gait; X-linked inheritance; X-linked recessive inheritanceObesity; Rhabdomyolysis
DNAJC61p31.3100%gene with protein product608375Abnormal pyramidal signs; Akinesia; Autosomal recessive inheritance; Bradykinesia; Brain atrophy; Cognitive impairment; Dysarthria; Dystonia; Fatigue; Gait ataxia; Hallucinations; Hypomimic face; Hyporeflexia; Inability to walk; Intellectual disability; Leg muscle stiffness; Parkinsonism; Pes cavus; Postural instability; Rapidly progressive; Resting tremor; Rigidity; Scoliosis; Seizures; Short stepped shuffling gait; Shuffling gait; Slow progression; Slowed slurred speech; Spasticity; Tremor; Weak voice
DUOX215q21.199.74%gene with protein product606759Abdominal distention; Autosomal recessive inheritance; Coarse facial features; Congenital hypothyroidism; Constipation; Decreased T3/T4 ratio; Fatigue; Global developmental delay; Goiter; Hypersomnia; Hypothyroidism; Increased thyroid-stimulating hormone level; Intellectual disability; Jaundice; Large fontanelles; Macroglossia; Muscular hypotonia; Short stature; Umbilical herniaInflammatory Bowel Disease
DUOXA215q21.1100%gene with protein product612772Abdominal distention; Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Coarse facial features; Constipation; Fatigue; Global developmental delay; Goiter; Growth delay; Hypersomnia; Hypothyroidism; Intellectual disability; Jaundice; Large fontanelles; Macroglossia; Muscular hypotonia; Short stature; Umbilical hernia
ELANE19p13.3100%gene with protein product130130ELA2Abnormality of the mouth; Acute monocytic leukemia; Anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital agranulocytosis; Cyclic neutropenia; Eosinophilia; Fatigue; Fever; Growth abnormality; Increased antibody level in blood; Infantile onset; Monocytosis; Neutropenia; Oral ulcer; Overlapping toe; Periodontitis; Recurrent bacterial infections; Recurrent skin infections; Sepsis; ThrombocytosisAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
EPCAM2p2199.97%gene with protein product185535M4S1, MIC18, TACSTD1Abdominal pain; Anxiety; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Failure to thrive; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hereditary nonpolyposis colorectal carcinoma; Hypertonia; Increased intracranial pressure; Intractable diarrhea; Irritability; Malabsorption; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Seizures; Villous atrophy; Weight loss
EPHA42q36.1100%gene with protein product602188TYRO1Amyotrophic lateral sclerosis; Anxiety; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
EPOR19p13.2100%gene with protein product133171Abdominal pain; Abnormal hemoglobin; Arthralgia; Epistaxis; Fatigue; Headache; Polycythemia; Pruritus; Venous thrombosis; Vertigo
ERAP15q1598.95%gene with protein product606832Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
ERBB42q34100%gene with protein product600543Adult onset; Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Loss of ability to walk; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Spasticity; Xerostomia
ERCC219q13.32100%gene with protein product126340XPDAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Abnormality of the thorax; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Asthma; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Brittle hair; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Chronic diarrhea; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed speech and language development; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Ectropion; EEG abnormality; Entropion; Erythema; Erythroderma; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Fine hair; Flexion contracture; Fragile nails; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Hyporeflexia; IgG deficiency; Intellectual disability; Intellectual disability, progressive; Intestinal obstruction; Intrauterine growth retardation; Joint stiffness; Keratitis; Kyphoscoliosis; Lack of subcutaneous fatty tissue; Large beaked nose; Malabsorption; Melanoma; Mental deterioration; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Nail dystrophy; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Photophobia; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Recurrent infections; Reduced tendon reflexes; Retinopathy; Retrognathia; Rocker bottom foot; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Small for gestational age; Small nail; Sparse hair; Spasticity; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia; Telangiectasia of the skin; Thin skin; Trichorrhexis nodosa; Urticaria; Visual impairment; Wide nasal bridgeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC32q14.3100%gene with protein product133510Abnormal CNS myelination; Abnormality of amino acid metabolism; Abnormality of the dentition; Arteriosclerosis; Arthralgia; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Basal ganglia calcification; Brittle hair; Cachexia; Cataract; Cerebellar atrophy; Coarse hair; Cognitive impairment; Confusion; Congenital nonbullous ichthyosiform erythroderma; Conjunctival telangiectasia; Cryptorchidism; Cutaneous melanoma; Cutaneous photosensitivity; Decreased fertility; Decreased nerve conduction velocity; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Erythema; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hyperreflexia; Hypogonadism; Hypopigmented skin patches; Increased cellular sensitivity to UV light; Intellectual disability; Intellectual disability, progressive; Keratitis; Melanoma; Microcephaly; Microphthalmia; Neoplasm; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Pigmentary retinopathy; Poikiloderma; Prematurely aged appearance; Progeroid facial appearance; Retinopathy; Sensorineural hearing impairment; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Tiger tail banding; Urticaria; VentriculomegalyEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
ERCC416p13.12100%gene with protein product133520XPF, FANCQAbnormality of amino acid metabolism; Abnormality of chromosome stability; Abnormality of the dentition; Absent thumb; Almond-shaped palpebral fissure; Aplasia/Hypoplasia of the radius; Arteriosclerosis; Arthralgia; Ascites; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Biliary atresia; Bone marrow hypocellularity; Cachexia; Cataract; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; EEG abnormality; Elevated hepatic transaminases; Erythema; Esophageal atresia; Failure to thrive; Fatigue; Fever; Freckling; Global developmental delay; Hearing impairment; High pitched voice; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertension; Hypogonadism; Hypopigmented skin patches; Hypoplasia of dental enamel; Infantile onset; Intellectual disability; Intellectual disability, mild; Intellectual disability, progressive; Irregular hyperpigmentation; Keratitis; Lack of subcutaneous fatty tissue; Leukopenia; Low-set ears; Melanoma; Microcephaly; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Papule; Phenotypic variability; Poikiloderma; Poor coordination; Prematurely aged appearance; Pyridoxine-responsive sideroblastic anemia; Retinopathy; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short palpebral fissure; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Telangiectasia of the skin; Thin skin; Thrombocytopenia; Tracheoesophageal fistula; Urticaria; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
ERCC513q33.1100%gene with protein product133530ERCM2, XPGCAbnormal nasal morphology; Abnormality of amino acid metabolism; Abnormality of immune system physiology; Abnormality of the dentition; Aplasia/Hypoplasia of the cerebellum; Arteriosclerosis; Arthralgia; Arthrogryposis multiplex congenita; Ataxia; Autosomal recessive inheritance; Basal cell carcinoma; Cachexia; Camptodactyly of finger; Cataract; Cerebral calcification; Cerebral cortical atrophy; Cognitive impairment; Confusion; Conjunctival telangiectasia; Cryptorchidism; Cutaneous photosensitivity; Death in infancy; Decreased fetal movement; Defective DNA repair after ultraviolet radiation damage; Demyelinating peripheral neuropathy; Dermal atrophy; Developmental regression; Diplopia; Dry skin; Dysarthria; Edema; EEG abnormality; Erythema; Everted lower lip vermilion; Failure to thrive; Fatigue; Feeding difficulties in infancy; Fever; Freckling; Global developmental delay; Hearing impairment; Hydrocephalus; Hyperkeratosis; Hypermelanotic macule; Hypertonia; Hypogonadism; Hypopigmented skin patches; Intellectual disability; Intellectual disability, progressive; Intrauterine growth retardation; Joint stiffness; Keratitis; Low-set ears; Melanoma; Microcephaly; Micrognathia; Microphthalmia; Muscular hypotonia; Numerous pigmented freckles; Nystagmus; Optic atrophy; Papilloma; Poikiloderma; Prematurely aged appearance; Prominent metopic ridge; Reduced tendon reflexes; Retinopathy; Rocker bottom foot; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short stature; Skin rash; Spasticity; Squamous cell carcinoma of the skin; Strabismus; Talipes equinovarus; Telangiectasia of the skin; Thin skin; Urticaria; Variable expressivity; Visual impairment; Wide nasal bridge
FAN115q13.3100%gene with protein product613534KIAA1018, MTMR15Abdominal pain; Anxiety; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Elevated serum creatinine; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Glycosuria; Hypertonia; Increased blood urea nitrogen; Increased intracranial pressure; Irritability; Malabsorption; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Nephronophthisis; Progressive; Proteinuria; Seizures; Stage 5 chronic kidney disease; Tubulointerstitial nephritis; Weight lossHeterotaxy
FAS10q23.31100%gene with protein product134637FAS1, APT1, TNFRSF6Abdominal pain; Abnormal blistering of the skin; Abnormal eyebrow morphology; Abnormality of the eyelashes; Acne; Antineutrophil antibody positivity; Antinuclear antibody positivity; Antiphospholipid antibody positivity; Arthralgia; Arthritis; Autoimmune hemolytic anemia; Autoimmune neutropenia; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Cataract; Chronic noninfectious lymphadenopathy; Cognitive impairment; Confusion; Coombs-positive hemolytic anemia; Decreased lymphocyte apoptosis; Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells; Eosinophilia; Fatigue; Fever; Follicular hyperplasia; Gait disturbance; Gastrointestinal hemorrhage; Glaucoma; Hemiparesis; Hepatomegaly; Hypopigmented skin patches; Immunologic hypersensitivity; Increased IgA level; Increased IgG level; Increased IgM level; Increased proportion of HLA DR+ T cells; Iron deficiency anemia; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Platelet antibody positive; Poliosis; Premature graying of hair; Recurrent aphthous stomatitis; Reduced delayed hypersensitivity; Retinal detachment; Rheumatoid factor positive; Sensorineural hearing impairment; Short stature; Smooth muscle antibody positivity; Sparse scalp hair; Splenomegaly; Subcutaneous nodule; Urticaria; Vasculitis; Venous thrombosis; Visual impairment; VitiligoAutoimmune Disorders ; Bone Marrow Failure Syndromes
FGF2312p13.32100%gene with protein product605380Abnormality of the dentition; Abnormality of the lower limb; Autosomal dominant inheritance; Bone pain; Elevated alkaline phosphatase; Fatigue; Generalized muscle weakness; Hyperphosphaturia; Hypophosphatemia; Hypophosphatemic rickets; Incomplete penetrance; Muscle weakness; Osteomalacia; Recurrent fractures; Renal phosphate wasting; Short stature
FH1q43100%gene with protein product136850Abnormality of the musculature; Adrenal pheochromocytoma; Agenesis of corpus callosum; Aminoaciduria; Anteverted nares; Autosomal recessive inheritance; Cerebral atrophy; Cerebral hemorrhage; Chest pain; Cholestasis; Choroid plexus cyst; Cutaneous leiomyoma; Depressed nasal bridge; Dysphonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Failure to thrive; Fatigue; Flushing; Frontal bossing; Generalized hypotonia; Global developmental delay; Glomerulosclerosis; Hepatic failure; High palate; Hypercalcemia; Hypertelorism; Hypertensive retinopathy; Hypoplasia of the brainstem; Intellectual disability, profound; Lactic acidosis; Metabolic acidosis; Microcephaly; Multiple cutaneous leiomyomas; Nausea; Neurological speech impairment; Open operculum; Optic atrophy; Pallor; Palpitations; Paraganglioma of head and neck; Paroxysmal vertigo; Polycythemia; Polymicrogyria; Positive regitine blocking test; Proteinuria; Pruritus; Pulsatile tinnitus; Recurrent paroxysmal headache; Reduced subcutaneous adipose tissue; Relative macrocephaly; Sinus tachycardia; Status epilepticus; Visual impairment; Weight lossNephrotic Syndrome ; Rhabdomyolysis
FIG46q2199.96%gene with protein product609390KIAA0274Abnormal pelvis bone morphology; Abnormality of blood and blood-forming tissues; Abnormality of dental structure; Abnormality of the neck; Abnormality of the occipital bone; Abnormality of the parietal bone; Abnormality of the scapula; Absent nipple; Absent sternal ossification; Absent thumb; Agenesis of corpus callosum; Aggressive behavior; Amyotrophic lateral sclerosis; Ankle contracture; Anteverted nares; Anxiety; Aplasia of the 1st metacarpal; Aplasia of the distal phalanges of the hand; Aplasia of the distal phalanx of the hallux; Aplasia/hypoplasia of the 1st metatarsal; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the distal phalanges of the hand; Aplasia/Hypoplasia of the hallux; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the nails; Aplasia/Hypoplasia of the nipples; Aplastic clavicles; Areflexia; Arrhinencephaly; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal loss; Bilateral external ear deformity; Bilateral microphthalmos; Broad secondary alveolar ridge; Bulbar signs; Cardiomegaly; Cardiomyopathy; Cataract; Congenital microcephaly; Cryptorchidism; Decreased motor nerve conduction velocity; Decreased nerve conduction velocity; Decreased skull ossification; Depressivity; Distal arthrogryposis; Distal muscle weakness; Distal sensory impairment; Dolichocephaly; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Focal seizures with impairment of consciousness or awareness; Frequent falls; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Generalized neonatal hypotonia; Global developmental delay; Hearing impairment; High forehead; High, narrow palate; Hip dislocation; Hydrops fetalis; Hypertelorism; Hypoplasia of the frontal lobes; Hypoplastic facial bones; Hyporeflexia; Hypospadias; Intrauterine growth retardation; Large fontanelles; Low-set ears; Metatarsus adductus; Microcephaly; Micrognathia; Micropenis; Muscle cramps; Neurodegeneration; Neuronal loss in central nervous system; Onion bulb formation; Pachygyria; Pain; Paralysis; Peripheral hypomyelination; Polyhydramnios; Polymicrogyria; Postnatal growth retardation; Premature birth; Premature loss of primary teeth; Progressive; Proptosis; Pulmonary arterial hypertension; Pyloric stenosis; Redundant neck skin; Respiratory failure; Rocker bottom foot; Sclerocornea; Severe failure to thrive; Severe global developmental delay; Short chin; Short clavicles; Short finger; Short middle phalanx of finger; Short philtrum; Short proximal phalanx of hallux; Short stature; Short toe; Short upper lip; Shortening of all distal phalanges of the toes; Single transverse palmar crease; Skeletal muscle atrophy; Small earlobe; Sparse and thin eyebrow; Sparse eyebrow; Sparse eyelashes; Sparse scalp hair; Spasticity; Status epilepticus; Syndactyly; Tapered finger; Tapered toe; Tetralogy of Fallot; Thin vermilion border; Toe syndactyly; Upper motor neuron dysfunction; Upslanted palpebral fissure; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visual hallucinations; Wide cranial sutures; XerostomiaDisorders of Sex Development
FOXE19q22.3399.93%gene with protein product602617FKHL15, TITF2, FOXE2Abdominal distention; Abnormal hair quantity; Abnormality of neck blood vessel; Autosomal recessive inheritance; Bifid epiglottis; Choanal atresia; Chronic noninfectious lymphadenopathy; Cleft palate; Coarse facial features; Congenital hypothyroidism; Constipation; Fatigue; Feeding difficulties; Follicular thyroid carcinoma; Global developmental delay; Hypersomnia; Hypothyroidism; Intellectual disability; Intellectual disability, severe; Large fontanelles; Macroglossia; Muscle weakness; Muscular hypotonia; Neoplasm of head and neck; Nodular goiter; Polyhydramnios; Retrognathia; Short stature; Thyroid agenesis
FOXP13p1399.87%gene with protein product605515Aggressive behavior; Anemia; Autosomal dominant inheritance; B-cell lymphoma; Broad nasal tip; Constipation; Delayed gross motor development; Delayed speech and language development; Downslanted palpebral fissures; Fatigue; Fever; Generalized hypotonia; Hyperactivity; Hyperhidrosis; Hypertelorism; Intellectual disability; Macrocephaly; Nausea and vomiting; Nystagmus; Open mouth; Prominent forehead; Pulmonary infiltrates; Retrognathia; Short nose; Stereotypy; Strabismus; Weight loss
FUS16p11.2100%gene with protein product137070ALS6Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Decreased muscle mass; Depressivity; Dysarthria; Dyspnea; EMG abnormality; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Gait disturbance; Generalized muscle weakness; Hyperreflexia; Hyporeflexia; Muscle cramps; Neurodegeneration; Neuronal loss in central nervous system; Pain; Paralysis; Postural tremor; Proximal amyotrophy; Pseudobulbar behavioral symptoms; Respiratory failure; Skeletal muscle atrophy; Spasticity; Subcutaneous nodule; Xerostomia
GATA1Xp11.23100%gene with protein product305371GF1Abnormal bleeding; Abnormal blistering of the skin; Abnormal hemoglobin; Abnormal lactate dehydrogenase activity; Abnormal megakaryocyte morphology; Abnormal platelet function; Abnormal urinary color; Abnormality of multiple cell lineages in the bone marrow; Abnormality of reticulocytes; Abnormality of the foot; Abnormality of the genital system; Abnormality of the hand; Abnormality of the heme biosynthetic pathway; Abnormality of the urinary system; Acanthocytosis; Acute megakaryocytic leukemia; Aganglionic megacolon; Alzheimer disease; Anal atresia; Anemia; Anemia of inadequate production; Anisocytosis; Arrhythmia; Atlantoaxial instability; Atypical scarring of skin; Brachycephaly; Broad palm; Bruising susceptibility; Brushfield spots; Cleft palate; Complete atrioventricular canal defect; Conductive hearing impairment; Congenital thrombocytopenia; Cryptorchidism; Cutaneous photosensitivity; Delayed puberty; Duodenal stenosis; Elliptocytosis; Epicanthus; Epistaxis; Fatigue; Flat face; Hemolytic anemia; Hypertrichosis; Hypochromic anemia; Hypoplastic iliac wing; Hypothyroidism; Immunodeficiency; Increased hemoglobin; Infantile onset; Intellectual disability; Joint laxity; Macrocytic anemia; Macroglossia; Macrothrombocytopenia; Malar flattening; Microtia; Migraine; Muscular hypotonia; Myeloproliferative disorder; Neutropenia; Osteopenia; Pallor; Persistent bleeding after trauma; Petechiae; Poikilocytosis; Prolonged bleeding time; Protruding tongue; Recurrent fractures; Recurrent skin infections; Reticulocytosis; Shallow acetabular fossae; Short middle phalanx of the 5th finger; Short palm; Short stature; Single transverse palmar crease; Splenomegaly; Sporadic; Thickened nuchal skin fold; Thrombocytopenia; Upslanted palpebral fissure; Variable expressivity; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
GATA23q21.3100%gene with protein productThe published variants deep within intron 4 of GATA2 would not be detected by XomeDxSlice137295Abnormal natural killer cell morphology; Abnormal neutrophil count; Abnormality of the optic nerve; Acute leukemia; Autosomal dominant inheritance; Bone marrow hypocellularity; Bruising susceptibility; Cellulitis; Chronic otitis media; Fatigue; Fever; Hepatomegaly; Hypercoagulability; Immunodeficiency; Intracranial hemorrhage; Lymphedema; Migraine; Monocytopenia; Myelodysplasia; Nausea and vomiting; Neurological speech impairment; Neutropenia; Pallor; Pancytopenia; Phenotypic variability; Prolonged bleeding time; Recurrent fungal infections; Recurrent mycobacterium avium complex infections; Recurrent respiratory infections; Recurrent viral infections; Respiratory failure; Sensorineural hearing impairment; Splenomegaly; Thrombocytopenia; Vertigo; Visual loss; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes
GBA1q2299.84%gene with protein productIncluded in this XomeDxSlice test, but please note that many disease alleles are not detectable by XomeDxSlice.606463GLUCAbdominal pain; Abnormal aortic arch morphology; Abnormal pattern of respiration; Adult onset; Akinesia; Anemia; Anorexia; Anteverted nares; Aortic valve calcification; Apathy; Apnea; Arthrogryposis multiplex congenita; Ascites; Aseptic necrosis; Ataxia; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Bulbar signs; Calcification of the aorta; Cardiomegaly; Cerebral atrophy; Congenital nonbullous ichthyosiform erythroderma; Cough; Death in infancy; Decreased beta-glucocerebrosidase protein and activity; Decreased body weight; Decreased fetal movement; Delayed puberty; Delayed skeletal maturation; Dementia; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dysphagia; Dyspnea; Dystonia; Ectropion; Encephalopathy; Epistaxis; Erlenmeyer flask deformity of the femurs; Esotropia; Everted lower lip vermilion; Everted upper lip vermilion; Failure to thrive; Fatigue; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Gait disturbance; Generalized myoclonic seizures; Gingival bleeding; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High palate; Horizontal nystagmus; Horizontal supranuclear gaze palsy; Hydrocephalus; Hydrops fetalis; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypersplenism; Hypertelorism; Hypertonia; Hypokinesia; Hypometric horizontal saccades; Increased antibody level in blood; Increased bone mineral density; Increased susceptibility to fractures; Interstitial pulmonary abnormality; Intracranial hemorrhage; Intrauterine growth retardation; Kyphosis; Low-set ears; Low-set, posteriorly rotated ears; Macular atrophy; Microcephaly; Micrognathia; Microtia; Mitral valve calcification; Motor delay; Multiple myeloma; Muscular hypotonia; Myoclonus; Narrow mouth; Neonatal death; Neurological speech impairment; Nonimmune hydrops fetalis; Oculomotor apraxia; Opacification of the corneal stroma; Open mouth; Ophthalmoplegia; Opisthotonus; Osteolysis; Osteopenia; Pancytopenia; Pathologic fracture; Pes cavus; Petechiae; Phenotypic variability; Polyhydramnios; Premature birth; Progressive neurologic deterioration; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Recurrent respiratory infections; Respiratory distress; Reticular hyperpigmentation; Retrognathia; Rigidity; Seizures; Short nose; Short stature; Slowed horizontal saccades; Spastic paraparesis; Spasticity; Splenomegaly; Stillbirth; Strabismus; Supranuclear ophthalmoplegia; Thoracic hypoplasia; Thrombocytopenia; Triangular face; Trismus; Vascular calcification; Ventriculomegaly; Vertebral compression fracturesPalmoplantar keratoderma plus congenital ichthyosis
GCH114q22.297.74%gene with protein product600225GCH, DYT5, DYT14Abnormality of eye movement; Abnormality of the substantia nigra; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Brisk reflexes; Childhood onset; Choreoathetosis; Decreased CSF homovanillic acid; Depressivity; Dysphagia; Dystonia; Episodic fever; Excessive salivation; Fatigue; Gait ataxia; Global developmental delay; Hearing impairment; Heterogeneous; Hyperkinesis; Hyperphenylalaninemia; Hyperreflexia; Infantile onset; Intellectual disability, progressive; Irritability; Lethargy; Limb dystonia; Limb hypertonia; Lower limb hyperreflexia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Pes cavus; Phenotypic variability; Postural tremor; Progressive neurologic deterioration; Rigidity; Scoliosis; Seizures; Severe muscular hypotonia; Sleep disturbance; Talipes equinovarus; Torticollis; Transient hyperphenylalaninemia; Tremor; Variable expressivity
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
GLAXq22.199.83%gene with protein product300644Abdominal pain; Abnormal aortic valve morphology; Abnormality of the hand; Abnormality of the renal tubule; Anemia; Angina pectoris; Angiokeratoma; Anorexia; Arrhythmia; Arthralgia; Arthritis; Atrioventricular block; Bundle branch block; Cataract; Coarse facial features; Cognitive impairment; Congestive heart failure; Conjunctival telangiectasia; Corneal dystrophy; Corneal opacity; Delayed puberty; Diarrhea; Dysautonomia; Emphysema; Fasciculations; Fatigue; Hematuria; Hyperkeratosis; Hyperlipidemia; Hypertension; Hypohidrosis; Juvenile onset; Left ventricular hypertrophy; Left ventricular septal hypertrophy; Lymphedema; Malabsorption; Mitral regurgitation; Muscle cramps; Myalgia; Myocardial infarction; Nausea; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Obstructive lung disease; Optic atrophy; Paresthesia; Proteinuria; Renal insufficiency; Seizures; Short stature; Subcutaneous nodule; Telangiectasia of the skin; Tenesmus; Thick lower lip vermilion; Transient ischemic attack; Vomiting; X-linked recessive inheritance
GLE19q34.1199.99%gene with protein product603371GLE1L, LCCS1Abnormal anterior horn cell morphology; Abnormal cortical bone morphology; Abnormality of the amniotic fluid; Abnormality of the elbow; Abnormality of the hip bone; Abnormality of the ribs; Abnormality of the thorax; Amniotic constriction ring; Amyotrophic lateral sclerosis; Anxiety; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Depressivity; Dyspnea; Edema; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Fetal akinesia sequence; Generalized muscle weakness; Hypertelorism; Hypoplasia of the musculature; Limitation of joint mobility; Low-set ears; Low-set, posteriorly rotated ears; Micrognathia; Muscle cramps; Neonatal death; Neurodegeneration; Pain; Paralysis; Paucity of anterior horn motor neurons; Polyhydramnios; Pulmonary hypoplasia; Recurrent fractures; Respiratory failure; Short neck; Short stature; Skeletal muscle atrophy; Slender long bone; Spasticity; Webbed neck; Widening of cervical spinal canal; Xerostomia
GLI22q14.299.99%gene with protein product165230Abnormal cortical gyration; Abnormal prolactin level; Abnormality of secondary sexual hair; Agenesis of incisor; Amenorrhea; Anophthalmia; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Bilateral cleft lip and palate; Cryptorchidism; Decreased circulating ACTH level; Decreased testicular size; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Ectopic posterior pituitary; Fatigue; Global developmental delay; Growth hormone deficiency; Holoprosencephaly; Hydrocephalus; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypopituitarism; Hypoplasia of the maxilla; Hypoplasia of the premaxilla; Hypotelorism; Hypotension; Incomplete penetrance; Infertility; Macrotia; Malar flattening; Microcephaly; Micropenis; Microphthalmia; Midface retrusion; Optic nerve hypoplasia; Osteopenia; Panhypopituitarism; Partial agenesis of the corpus callosum; Pituitary hypothyroidism; Postaxial hand polydactyly; Prominent antihelix; Seizures; Short hard palate; Short philtrum; Short stature; Single median maxillary incisor; Single naris; Sporadic; Underdeveloped tragus; Variable expressivity
GNAS20q13.3299.88%gene with protein product139320GNAS1Abnormality of the musculature; Abnormality of the skin; Adult onset; Agitation; Anxiety; Autosomal dominant inheritance; Basal ganglia calcification; Blindness; Bone pain; Brachydactyly; Broad 1st metacarpal; Bruising susceptibility; Cardiomyopathy; Cataract; Choroid plexus calcification; Coarse facial features; Cognitive impairment; Constrictive median neuropathy; Craniofacial hyperostosis; Decreased circulating ACTH level; Delayed eruption of teeth; Depressed nasal bridge; Depressivity; Diabetes mellitus; Ectopic calcification; Ectopic ossification; Ectopic ossification in muscle tissue; Elevated circulating parathyroid hormone level; Facial asymmetry; Failure to thrive; Fatigue; Fibrous dysplasia of the bones; Full cheeks; Galactorrhea; Generalized hirsutism; Generalized hyperpigmentation; Growth delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Hyperparathyroidism; Hyperphosphatemia; Hypertension; Hyperthyroidism; Hypocalcemia; Hypocalcemic tetany; Hypogonadism; Hypophosphatemia; Hypoplasia of dental enamel; Hypothyroidism; Increased bone mineral density; Increased circulating cortisol level; Increased serum insulin-like growth factor 1; Infantile onset; Intellectual disability; Intestinal polyposis; Juvenile onset; Kyphosis; Large cafe-au-lait macules with irregular margins; Left ventricular hypertrophy; Limitation of joint mobility; Low urinary cyclic AMP response to PTH administration; Macronodular adrenal hyperplasia; Menometrorrhagia; Menstrual irregularities; Mental deterioration; Mood changes; Multiple cafe-au-lait spots; Muscle weakness; Neoplasm; Nephrolithiasis; Nystagmus; Obesity; Osteoma; Osteopenia; Osteoporosis; Pathologic fracture; Phenotypic variability; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary prolactin cell adenoma; Pituitary resistance to thyroid hormone; Polyostotic fibrous dysplasia; Polyphagia; Precocious puberty; Primary hypercorticolism; Progressive; Prolactin excess; Prolactinoma; Pseudohypoparathyroidism; Psychosis; Recurrent fractures; Reduced bone mineral density; Round face; Seizures; Short 4th metacarpal; Short 5th metacarpal; Short fifth metatarsal; Short finger; Short metacarpal; Short metatarsal; Short neck; Short stature; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Somatic mosaicism; Somatic mutation; Sporadic; Striae distensae; Subcutaneous nodule; Thickened calvaria; Thin skin; Truncal obesity; Variable expressivityObesity
GPR101Xq26.3100%gene with protein product300393Abnormal toenail morphology; Abnormality of the fingernails; Acanthosis nigricans; Accelerated skeletal maturation; Anterior hypopituitarism; Anxiety; Arthralgia; Broad foot; Broad forehead; Broad jaw; Cerebral palsy; Coarse facial features; Cortical diaphyseal thickening of the upper limbs; Deep palmar crease; Deep plantar creases; Depressivity; Diabetes mellitus; Dysmenorrhea; Fatigue; Frontal bossing; Full cheeks; Generalized hirsutism; Growth hormone excess; Hoarse voice; Hyperhidrosis; Hypertension; Joint swelling; Kyphosis; Large hands; Long face; Long foot; Long penis; Macrodactyly; Macroglossia; Macrotia; Mandibular prognathia; Migraine; Osteoarthritis; Palpebral edema; Paresthesia; Pituitary adenoma; Pituitary prolactin cell adenoma; Polyphagia; Sleep apnea; Snoring; Spinal canal stenosis; Synophrys; Tall stature; Tapered finger; Thick lower lip vermilion; Ventricular hypertrophy; Wide nose; Widely spaced teeth; X-linked dominant inheritance
HBA116p13.394.95%gene with protein product141800Abnormal hemoglobin; Abnormality of metabolism/homeostasis; Anemia; Aplasia/Hypoplasia of the earlobes; Autosomal dominant inheritance; Broad forehead; Bruising susceptibility; Congestive heart failure; Cryptorchidism; Downslanted palpebral fissures; Epicanthus; Failure to thrive; Fatigue; Heinz body anemia; Hemoglobin H; Hemolytic anemia; Hepatomegaly; High forehead; High palate; Hydrocephalus; Hydrops fetalis; Hypertelorism; Hypochromic microcytic anemia; Intellectual disability; Low-set, posteriorly rotated ears; Malar flattening; Microcephaly; Microcytic anemia; Micrognathia; Muscular hypotonia; Neurological speech impairment; Nonspherocytic hemolytic anemia; Oligohydramnios; Pallor; Pectus carinatum; Polyhydramnios; Preeclampsia; Reduced alpha/beta synthesis ratio; Retrognathia; Short neck; Short stature; Short toe; Splenomegaly; Talipes equinovarus; Wide nasal bridgeHemolytic Anemia
HBA216p13.371.52%gene with protein product141850Abnormal hemoglobin; Abnormality of metabolism/homeostasis; Anemia; Aplasia/Hypoplasia of the earlobes; Autosomal dominant inheritance; Broad forehead; Bruising susceptibility; Congestive heart failure; Cryptorchidism; Downslanted palpebral fissures; Epicanthus; Failure to thrive; Fatigue; Heinz body anemia; Hemoglobin H; Hemolytic anemia; Hepatomegaly; High forehead; High palate; Hydrocephalus; Hydrops fetalis; Hypertelorism; Hypochromic microcytic anemia; Intellectual disability; Low-set, posteriorly rotated ears; Malar flattening; Microcephaly; Microcytic anemia; Micrognathia; Muscular hypotonia; Neurological speech impairment; Nonspherocytic hemolytic anemia; Oligohydramnios; Pallor; Pectus carinatum; Polyhydramnios; Preeclampsia; Reduced alpha/beta synthesis ratio; Retrognathia; Short neck; Short stature; Short toe; Splenomegaly; Talipes equinovarus; Wide nasal bridgeHemolytic Anemia
HESX13p14.399.93%gene with protein product601802Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Amenorrhea; Anosmia; Anterior hypopituitarism; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Central hypothyroidism; Cleft palate; Coarse facial features; Constipation; Cryptorchidism; Decreased circulating ACTH level; Decreased fertility; Decreased testicular size; Delayed puberty; Depressed nasal ridge; Diabetes insipidus; Ectopic posterior pituitary; Erectile abnormalities; Failure to thrive; Fatigue; Feeding difficulties; Global developmental delay; Growth hormone deficiency; Hemiplegia/hemiparesis; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hyposmia; Hypotension; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Micropenis; Muscular hypotonia; Nystagmus; Optic disc hypoplasia; Optic nerve hypoplasia; Oral cleft; Osteopenia; Phenotypic variability; Pituitary hypothyroidism; Polydactyly; Reduced bone mineral density; Seizures; Septo-optic dysplasia; Short finger; Short stature; Sleep disturbance; Strabismus; Umbilical hernia; Visual impairment
HESX13p14.399.93%gene with protein product601802Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Amenorrhea; Anosmia; Anterior hypopituitarism; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Central hypothyroidism; Cleft palate; Coarse facial features; Constipation; Cryptorchidism; Decreased circulating ACTH level; Decreased fertility; Decreased testicular size; Delayed puberty; Depressed nasal ridge; Diabetes insipidus; Ectopic posterior pituitary; Erectile abnormalities; Failure to thrive; Fatigue; Feeding difficulties; Global developmental delay; Growth hormone deficiency; Hemiplegia/hemiparesis; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hyposmia; Hypotension; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Micropenis; Muscular hypotonia; Nystagmus; Optic disc hypoplasia; Optic nerve hypoplasia; Oral cleft; Osteopenia; Phenotypic variability; Pituitary hypothyroidism; Polydactyly; Reduced bone mineral density; Seizures; Septo-optic dysplasia; Short finger; Short stature; Sleep disturbance; Strabismus; Umbilical hernia; Visual impairment
HFE6p22.2100%gene with protein product613609Abdominal pain; Abnormal glucose tolerance; Abnormality of the hypothalamus-pituitary axis; Alopecia; Amenorrhea; Arrhythmia; Arthralgia; Arthropathy; Ascites; Autosomal recessive inheritance; Azoospermia; Cardiomegaly; Cardiomyopathy; Chondrocalcinosis; Cirrhosis; Congestive heart failure; Diabetes mellitus; Elevated hepatic transaminases; Fatigue; Gynecomastia; Hepatic steatosis; Hepatocellular carcinoma; Hepatomegaly; Hyperpigmentation of the skin; Hypogonadism; Hypogonadotrophic hypogonadism; Impotence; Increased serum ferritin; Increased serum iron; Joint dislocation; Limitation of joint mobility; Osteoporosis; Pleural effusion; Splenomegaly; Telangiectasia; Testicular atrophy
HLA-B6p21.3399.17%gene with protein productXomeDxSlice is not appropriate.142830ASAbdominal pain; Abnormal aortic valve morphology; Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of neutrophils; Acantholysis; Acne; Anemia; Anorexia; Arthralgia; Arthritis; Ascending tubular aorta aneurysm; Chest pain; Confusion; Diarrhea; Dysphagia; Erythema; Excessive salivation; Fatigue; Fever; Gait disturbance; Gangrene; Gastrointestinal hemorrhage; Hemiparesis; Hyperhidrosis; Hypertensive crisis; Hypertrophic cardiomyopathy; Immunologic hypersensitivity; Inflammatory abnormality of the eye; Macule; Meningitis; Migraine; Muscle weakness; Myalgia; Myocardial infarction; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Pulmonary arterial hypertension; Recurrent aphthous stomatitis; Seizures; Skin ulcer; Subcutaneous nodule; Vasculitis; Venous thrombosis; Weight loss
HLA-B6p21.3399.17%gene with protein productXomeDxSlice is not appropriate.142830ASAbdominal pain; Abnormal aortic valve morphology; Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of neutrophils; Acantholysis; Acne; Anemia; Anorexia; Arthralgia; Arthritis; Ascending tubular aorta aneurysm; Chest pain; Confusion; Diarrhea; Dysphagia; Erythema; Excessive salivation; Fatigue; Fever; Gait disturbance; Gangrene; Gastrointestinal hemorrhage; Hemiparesis; Hyperhidrosis; Hypertensive crisis; Hypertrophic cardiomyopathy; Immunologic hypersensitivity; Inflammatory abnormality of the eye; Macule; Meningitis; Migraine; Muscle weakness; Myalgia; Myocardial infarction; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Pulmonary arterial hypertension; Recurrent aphthous stomatitis; Seizures; Skin ulcer; Subcutaneous nodule; Vasculitis; Venous thrombosis; Weight loss
HLA-B6p21.3399.17%gene with protein productXomeDxSlice is not appropriate.142830ASAbdominal pain; Abnormal aortic valve morphology; Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of neutrophils; Acantholysis; Acne; Anemia; Anorexia; Arthralgia; Arthritis; Ascending tubular aorta aneurysm; Chest pain; Confusion; Diarrhea; Dysphagia; Erythema; Excessive salivation; Fatigue; Fever; Gait disturbance; Gangrene; Gastrointestinal hemorrhage; Hemiparesis; Hyperhidrosis; Hypertensive crisis; Hypertrophic cardiomyopathy; Immunologic hypersensitivity; Inflammatory abnormality of the eye; Macule; Meningitis; Migraine; Muscle weakness; Myalgia; Myocardial infarction; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Pulmonary arterial hypertension; Recurrent aphthous stomatitis; Seizures; Skin ulcer; Subcutaneous nodule; Vasculitis; Venous thrombosis; Weight loss
HLA-DPB16p21.3299.92%gene with protein productXomeDxSlice is not appropriate.142858HLA-DP1BAbdominal pain; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Arthralgia; Autoimmunity; Cerebral ischemia; Chest pain; Chronic obstructive pulmonary disease; Cough; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glomerulopathy; Granulomatosis; Hematuria; Hemoptysis; Inflammatory abnormality of the eye; Nausea and vomiting; Papule; Periorbital edema; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Sinusitis; Skin rash; Vasculitis; Weight loss
HLA-DRB16p21.3297.56%gene with protein productXomeDxSlice is not appropriate.142857HLA-DR1BAbnormal blistering of the skin; Abnormal rapid eye movement sleep; Abnormality of vision; Arthralgia; Arthritis; Autoimmunity; Carious teeth; Cataplexy; Chest pain; Cough; Diabetes mellitus; Dyspareunia; Dysphagia; Dyspnea; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Erythema; Erythema nodosum; Excessive daytime sleepiness; Excessive daytime somnolence; Fatigue; Fever; Flexion contracture; Gastroesophageal reflux; Hallucinations; Hypopigmented skin patches; Increase in T cell count; Insomnia; Joint swelling; Juvenile rheumatoid arthritis; Leukopenia; Lymphadenopathy; Lymphoma; Macule; Malabsorption; Mediastinal lymphadenopathy; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Night sweats; Oliguria; Osteolysis; Psoriasiform dermatitis; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent infections; Skin rash; Skin ulcer; Splenomegaly; Telangiectasia of the skin; Thrombocytopenia; Transient global amnesia; Urticaria; Uveitis; Weight loss; Xerostomia
HLA-DRB16p21.3297.56%gene with protein productXomeDxSlice is not appropriate.142857HLA-DR1BAbnormal blistering of the skin; Abnormal rapid eye movement sleep; Abnormality of vision; Arthralgia; Arthritis; Autoimmunity; Carious teeth; Cataplexy; Chest pain; Cough; Diabetes mellitus; Dyspareunia; Dysphagia; Dyspnea; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Erythema; Erythema nodosum; Excessive daytime sleepiness; Excessive daytime somnolence; Fatigue; Fever; Flexion contracture; Gastroesophageal reflux; Hallucinations; Hypopigmented skin patches; Increase in T cell count; Insomnia; Joint swelling; Juvenile rheumatoid arthritis; Leukopenia; Lymphadenopathy; Lymphoma; Macule; Malabsorption; Mediastinal lymphadenopathy; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Night sweats; Oliguria; Osteolysis; Psoriasiform dermatitis; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent infections; Skin rash; Skin ulcer; Splenomegaly; Telangiectasia of the skin; Thrombocytopenia; Transient global amnesia; Urticaria; Uveitis; Weight loss; Xerostomia
HNF1A12q24.31100%gene with protein product142410MODY3, TCF1Abnormality of fatty-acid metabolism; Agitation; Autosomal dominant inheritance; Coma; Diarrhea; Drowsiness; Elevated hepatic transaminases; Fasting hypoglycemia; Fatigue; Hepatocellular adenoma; Hepatomegaly; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hypoketotic hypoglycemia; Infantile onset; Intellectual disability; Large for gestational age; Lethargy; Maturity-onset diabetes of the young; Neonatal hypoglycemia; Neonatal hypotonia; Pallor; Pancreatic islet-cell hyperplasia; Polycystic ovaries; Progressive neurologic deterioration; Renal cell carcinoma; Seizures; Sporadic; Tachycardia; Tremor; Type I diabetes mellitus; Type II diabetes mellitus; Vomiting
HNF4A20q13.12100%gene with protein product600281TCF14, MODY, MODY1Abnormality of fatty-acid metabolism; Agitation; Aminoaciduria; Autosomal dominant inheritance; Coma; Diabetes mellitus; Diarrhea; Drowsiness; Elevated alkaline phosphatase; Elevated hepatic transaminases; Fasting hypoglycemia; Fatigue; Glycosuria; Hepatomegaly; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperphosphaturia; Hypoglycemia; Hypoketotic hypoglycemia; Hypophosphatemic rickets; Hypouricemia; Increased hepatic glycogen content; Intellectual disability; Large for gestational age; Lethargy; Maturity-onset diabetes of the young; Metabolic ketoacidosis; Multicystic kidney dysplasia; Neonatal hypoglycemia; Neonatal hypotonia; Nephrocalcinosis; Pallor; Pancreatic islet-cell hyperplasia; Progressive neurologic deterioration; Proteinuria; Renal Fanconi syndrome; Rickets; Seizures; Short stature; Tachycardia; Tremor; Vomiting
HNRNPA112q13.13100%gene with protein product164017HNRPA1Abnormality of the abdominal musculature; Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Brain atrophy; Depressivity; Distal muscle weakness; Dyspnea; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontotemporal dementia; Generalized muscle weakness; Hip pain; Hyperlordosis; Increased variability in muscle fiber diameter; Limb-girdle muscular dystrophy; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle fiber inclusion bodies; Muscular dystrophy; Myopathy; Neurodegeneration; Osteolysis; Pain; Paralysis; Proximal muscle weakness; Respiratory failure; Rimmed vacuoles; Short stature; Skeletal muscle atrophy; Spasticity; Ubiquitin-positive cerebral inclusion bodies; Waddling gait; Xerostomia
IGH14q32.33gene with protein productXomeDxSlice is not appropriate146910, 147010,IGHDY1, IGH@Abnormality of bone marrow cell morphology; Anemia; Anorexia; B-cell lymphoma; Constipation; Fatigue; Fever; Hyperhidrosis; Lymphadenopathy; Lymphoma; Mediastinal lymphadenopathy; Nausea and vomiting; Night sweats; Pulmonary infiltrates; Splenomegaly; Weight loss
IGH14q32.33gene with protein productXomeDxSlice is not appropriate146910, 147010,IGHDY1, IGH@Abnormality of bone marrow cell morphology; Anemia; Anorexia; B-cell lymphoma; Constipation; Fatigue; Fever; Hyperhidrosis; Lymphadenopathy; Lymphoma; Mediastinal lymphadenopathy; Nausea and vomiting; Night sweats; Pulmonary infiltrates; Splenomegaly; Weight loss
IGH14q32.33gene with protein productXomeDxSlice is not appropriate146910, 147010,IGHDY1, IGH@Abnormality of bone marrow cell morphology; Anemia; Anorexia; B-cell lymphoma; Constipation; Fatigue; Fever; Hyperhidrosis; Lymphadenopathy; Lymphoma; Mediastinal lymphadenopathy; Nausea and vomiting; Night sweats; Pulmonary infiltrates; Splenomegaly; Weight loss
IGHM14q32.33immunoglobulin geneXomeDxSlice is not appropriate.147020Agammaglobulinemia; Arthritis; Autosomal recessive inheritance; B lymphocytopenia; Bronchiectasis; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Neutropenia; Osteomyelitis; Recurrent bacterial infections; Recurrent enteroviral infections; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent sinusitis; Recurrent skin infections; Sinusitis; Skin rash
IGLL122q11.23100%gene with protein product146770IGLLAgammaglobulinemia; Arthritis; Autosomal recessive inheritance; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Failure to thrive; Fatigue; Fever; Immunodeficiency; Infantile onset; Meningitis; Osteomyelitis; Recurrent bacterial infections; Recurrent pneumonia; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
IKZF17p12.210.34%gene with protein productLow coverage on XomeDx platform 603023ZNFN1A1Abnormal blistering of the skin; Abnormality of neutrophils; Acantholysis; Autosomal dominant inheritance; B lymphocytopenia; Decreased antibody level in blood; Diarrhea; Dysphagia; Erythema; Excessive salivation; Fatigue; Fever; Incomplete penetrance; Macule; Nausea and vomiting; Recurrent bacterial infections; Weight lossAutoimmune Disorders ; Common Variable Immune Deficiency
IL101q32.1100%gene with protein product124092Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosisAutoimmune Disorders ; Inflammatory Bowel Disease
IL12A3q25.3399.97%gene with protein product161560NKSF1Abdominal pain; Abnormal blistering of the skin; Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Acne; Antinuclear antibody positivity; Arthralgia; Arthritis; Biliary cirrhosis; Cirrhosis; Confusion; Conjugated hyperbilirubinemia; Dermatographic urticaria; Elevated alkaline phosphatase; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Immunologic hypersensitivity; Increased IgM level; Jaundice; Meningitis; Migraine; Myalgia; Nausea and vomiting; Onychomycosis; Oral ulcer; Orchitis; Orthostatic hypotension; Papule; Photophobia; Portal hypertension; Pruritus; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
IL12A-AS13q25.33RNA, long non-codingXomeDxSlice is not appropriate.Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
IL12B5q33.3100%gene with protein product161561NKSF2Abnormal aortic valve morphology; Abnormal pattern of respiration; Anemia; Anorexia; Arthritis; Ascending tubular aorta aneurysm; Autosomal recessive inheritance; Chest pain; Fatigue; Fever; Gangrene; Hyperhidrosis; Hypertensive crisis; Hypertrophic cardiomyopathy; Immunodeficiency; Inflammatory abnormality of the eye; Migraine; Muscle weakness; Myalgia; Myocardial infarction; Pulmonary arterial hypertension; Seizures; Skin ulcer; Subcutaneous nodule; Vasculitis; Weight loss
IL23R1p31.399.96%gene with protein product607562Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
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
IYD6q25.1100%gene with protein product612025C6orf71Abdominal distention; Autosomal recessive inheritance; Coarse facial features; Constipation; Fatigue; Global developmental delay; Goiter; Growth delay; Hypersomnia; Hypothyroidism; Intellectual disability; Jaundice; Large fontanelles; Macroglossia; Muscular hypotonia; Short stature; Umbilical hernia
JAK29p24.199.18%gene with protein product147796Abdominal pain; Abnormal bleeding; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Angina pectoris; Arterial thrombosis; Arthralgia; Ascites; Autosomal dominant inheritance; Bruising susceptibility; Budd-Chiari syndrome; Cerebral hemorrhage; Cerebral ischemia; Chest pain; Cirrhosis; Elevated hepatic transaminases; Epistaxis; Esophageal varix; Exertional dyspnea; Fatigue; Fever; Gastrointestinal hemorrhage; Gingival bleeding; Headache; Hepatomegaly; Hyperhidrosis; Hypertension; Increased hematocrit; Increased hemoglobin; Increased megakaryocyte count; Increased red blood cell mass; Leukocytosis; Myelodysplasia; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Paresthesia; Peripheral arterial stenosis; Peripheral thrombosis; Plethora; Portal hypertension; Prolonged bleeding time; Pruritus; Respiratory insufficiency; Somatic mutation; Splenomegaly; Sporadic; Thrombocytopenia; Thrombocytosis; Thromboembolism; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossBone Marrow Failure Syndromes
JAK29p24.199.18%gene with protein product147796Abdominal pain; Abnormal bleeding; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Angina pectoris; Arterial thrombosis; Arthralgia; Ascites; Autosomal dominant inheritance; Bruising susceptibility; Budd-Chiari syndrome; Cerebral hemorrhage; Cerebral ischemia; Chest pain; Cirrhosis; Elevated hepatic transaminases; Epistaxis; Esophageal varix; Exertional dyspnea; Fatigue; Fever; Gastrointestinal hemorrhage; Gingival bleeding; Headache; Hepatomegaly; Hyperhidrosis; Hypertension; Increased hematocrit; Increased hemoglobin; Increased megakaryocyte count; Increased red blood cell mass; Leukocytosis; Myelodysplasia; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Paresthesia; Peripheral arterial stenosis; Peripheral thrombosis; Plethora; Portal hypertension; Prolonged bleeding time; Pruritus; Respiratory insufficiency; Somatic mutation; Splenomegaly; Sporadic; Thrombocytopenia; Thrombocytosis; Thromboembolism; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossBone Marrow Failure Syndromes
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
KIF2315q2399.95%gene with protein product605064KNSL5Abnormal cellular phenotype; Abnormal proerythroblast morphology; Anemia; Anisocytosis; Fatigue; Hyperbilirubinemia; Increased mean corpuscular volume; Increased serum iron; Increased total iron binding capacity; PoikilocytosisBone Marrow Failure Syndromes
KIT4q1299.96%gene with protein product164920PBTAbnormal blistering of the skin; Abnormality of metabolism/homeostasis; Abnormality of the ear; Absent pigmentation of the ventral chest; Acute myeloid leukemia; Aganglionic megacolon; Autosomal dominant inheritance; Chronic myelogenous leukemia; Chronic myelomonocytic leukemia; Constipation; Cryptorchidism; Cutaneous mastocytosis; Dysphagia; Eosinophilia; Erythema; Erythroderma; Fatigue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Gonadal dysgenesis; Heterochromia iridis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypopigmented skin patches; Intestinal obstruction; Large hands; Macule; Mastocytosis; Myelodysplasia; Nausea and vomiting; Neoplasm; Neoplasm of the stomach; Neurofibromas; Partial albinism; Piebaldism; Profuse pigmented skin lesions; Pruritus; Sarcoma; Somatic mutation; Sporadic; Subcutaneous nodule; Telangiectasia macularis eruptiva perstans; Teratoma; Thickened skin; Urticaria; White eyebrow; White eyelashes; White forelockBone Marrow Failure Syndromes ; Waardenburg Syndrome
KLRC412p13.299.87%gene with protein product602893Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Confusion; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Recurrent aphthous stomatitis; Subcutaneous nodule; Vasculitis; Venous thrombosis
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
LBR1q42.1299.94%gene with protein product60002411 pairs of ribs; Abnormal foot bone ossification; Abnormal joint morphology; Abnormal leukocyte morphology; Abnormal lung lobation; Abnormal ossification involving the femoral head and neck; Abnormal pelvis bone ossification; Abnormal vertebral ossification; Abnormality of cholesterol metabolism; Abnormality of chromosome segregation; Abnormality of the calcaneus; Abnormality of the gastric mucosa; Abnormality of the scapula; Abnormality of the vertebral spinous processes; Absent or minimally ossified vertebral bodies; Absent toenail; Anterior rib punctate calcifications; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Biliary cirrhosis; Bone marrow hypocellularity; Bowing of the long bones; Brachydactyly; Broad palm; Calcinosis; Calcinosis cutis; Calvarial skull defect; Cardiomegaly; Cystic hygroma; Decreased skull ossification; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dysphagia; Elevated alkaline phosphatase; Elevated hepatic transaminases; Epiphyseal stippling; Extramedullary hematopoiesis; Fatigue; Fever; Flared metaphysis; Gastroesophageal reflux; Gastrointestinal hemorrhage; Global developmental delay; Hepatic calcification; Hepatomegaly; Hepatosplenomegaly; High forehead; Horizontal sacrum; Hyperbilirubinemia; Hypertelorism; Hypoplasia of the maxilla; Hypoplastic fingernail; Hypoplastic vertebral bodies; Hyposegmentation of neutrophil nuclei; Intestinal malrotation; Irregular hyperpigmentation; Jaundice; Keratoconjunctivitis sicca; Laryngeal calcification; Lethal skeletal dysplasia; Lip telangiectasia; Long clavicles; Low-set ears; Lymphedema; Macrocephaly; Malar flattening; Mesomelia; Metaphyseal cupping; Micrognathia; Micromelia; Midface retrusion; Misalignment of teeth; Mucosal telangiectasiae; Multiple prenatal fractures; Myalgia; Narrow chest; Neonatal death; Nonimmune hydrops fetalis; Omphalocele; Palmar telangiectasia; Pancreatic islet-cell hyperplasia; Patchy variation in bone mineral density; Platyspondyly; Pleural effusion; Polydactyly; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Preeclampsia; Prominent forehead; Pruritus; Pulmonary hypoplasia; Punctate vertebral calcifications; Raynaud phenomenon; Rhizomelia; Sandal gap; Sclerodactyly; Scleroderma; Sclerosis of skull base; Severe hydrops fetalis; Severe short-limb dwarfism; Short diaphyses; Short phalanx of finger; Short ribs; Skin rash; Skin ulcer; Splenomegaly; Steatorrhea; Sternal punctate calcifications; Stillbirth; Supernumerary vertebral ossification centers; Telangiectasia of the skin; Tracheal calcification; Ulnar deviation of the hand; Xerostomia
LHX39q34.399.97%gene with protein product600577Abdominal distention; Abnormality of the hypothalamus-pituitary axis; Anterior pituitary hypoplasia; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Fatigue; Feeding difficulties; Global developmental delay; Gonadotropin deficiency; Growth hormone deficiency; Hypothalamic luteinizing hormone-releasing hormone deficiency; Intellectual disability; Jaundice; Large fontanelles; Muscular hypotonia; Oral cleft; Pituitary dwarfism; Pituitary hypothyroidism; Sensorineural hearing impairment; Septo-optic dysplasia; Short neck; Short stature; Sleep disturbance; Thoracolumbar kyphoscoliosis; Umbilical hernia
LHX41q25.2100%gene with protein product602146Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Adrenal insufficiency; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Decreased circulating ACTH level; Decreased testicular size; Delayed puberty; Depressed nasal ridge; Ectopic posterior pituitary; Failure to thrive; Fatigue; Feeding difficulties; Global developmental delay; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypotension; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Marked delay in bone age; Muscular hypotonia; Oral cleft; Osteopenia; Pituitary dwarfism; Pituitary hypothyroidism; Septo-optic dysplasia; Severe postnatal growth retardation; Short stature; Sleep disturbance; Umbilical hernia
LHX41q25.2100%gene with protein product602146Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Adrenal insufficiency; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Decreased circulating ACTH level; Decreased testicular size; Delayed puberty; Depressed nasal ridge; Ectopic posterior pituitary; Failure to thrive; Fatigue; Feeding difficulties; Global developmental delay; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypotension; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Marked delay in bone age; Muscular hypotonia; Oral cleft; Osteopenia; Pituitary dwarfism; Pituitary hypothyroidism; Septo-optic dysplasia; Severe postnatal growth retardation; Short stature; Sleep disturbance; Umbilical hernia
LRRC8A9q34.11100%gene with protein product608360LRRC8Agammaglobulinemia; Arthritis; Autosomal dominant inheritance; Chronic otitis media; Conjunctivitis; Cough; Diarrhea; Epicanthus; Failure to thrive; Fatigue; Fever; High palate; Hypertelorism; Immunodeficiency; Low-set ears; Osteomyelitis; Recurrent respiratory infections; Recurrent skin infections; Sinusitis; Skin rashAutoimmune Disorders
MALT118q21.3299.39%gene with protein product604860MLTAnemia; Autosomal recessive inheritance; B-cell lymphoma; Constipation; Fatigue; Fever; Growth delay; Hyperhidrosis; Immunodeficiency; Nausea and vomiting; Pulmonary infiltrates; Recurrent bacterial infections; Recurrent viral infections; Weight loss
MATR35q31.2100%gene with protein product164015MPD2Abnormal lower motor neuron morphology; Abnormal upper motor neuron morphology; Abnormality of the nasopharynx; Adult onset; Amyotrophic lateral sclerosis; Anxiety; Aspiration; Autosomal dominant inheritance; Bowing of the vocal cords; Bulbar palsy; Bulbar signs; Decreased nerve conduction velocity; Depressivity; Distal muscle weakness; Dysarthria; Dysphagia; Dyspnea; Elevated serum creatine phosphokinase; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Hoarse voice; Hyperreflexia; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Respiratory insufficiency due to muscle weakness; Rimmed vacuoles; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spasticity; Variable expressivity; Xerostomia
MAX14q23.3100%gene with protein product154950Adrenal pheochromocytoma; Cerebral hemorrhage; Chest pain; Dysphonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Glomerulosclerosis; Hypercalcemia; Hypertensive retinopathy; Nausea; Palpitations; Paraganglioma of head and neck; Paroxysmal vertigo; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Sinus tachycardia; Weight loss
MDH27q11.23100%gene with protein product154100Absent speech; Adrenal pheochromocytoma; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral hemorrhage; Chest pain; Constipation; Delayed myelination; Dysphonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Epileptic encephalopathy; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Failure to thrive; Fatigue; Feeding difficulties; Flushing; Global developmental delay; Glomerulosclerosis; Hypercalcemia; Hypertensive retinopathy; Hypoplasia of the corpus callosum; Inability to walk; Increased CSF lactate; Increased serum lactate; Nausea; Palpitations; Paraganglioma of head and neck; Paroxysmal vertigo; Poor head control; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Seizures; Sinus tachycardia; Skeletal muscle atrophy; Strabismus; Weight loss
MEFV16p13.3100%gene with protein product608107MEFAbdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Chest pain; Confusion; Constipation; Diarrhea; Elevated erythrocyte sedimentation rate; Episodic fever; Erysipelas; Erythema; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Hemiparesis; Hepatomegaly; Immunologic hypersensitivity; Juvenile onset; Leukocytosis; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephrotic syndrome; Oral leukoplakia; Oral ulcer; Orchitis; Papule; Pericarditis; Peritonitis; Photophobia; Pleuritis; Polyarticular arthritis; Proteinuria; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Seizures; Splenomegaly; Subcutaneous nodule; Vasculitis; Venous thrombosisInflammatory Bowel Disease ; Primary Immunodeficiency
MEN111q13100%gene with protein product613733Abnormality of hair density; Abnormality of the pancreatic islet cells; Abnormality of the thyroid gland; Adenoma sebaceum; Adrenocortical adenoma; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Amenorrhea; Angiofibromas; Autosomal dominant inheritance; Cafe-au-lait spot; Carcinoid tumor; Chondrocalcinosis; Confetti-like hypopigmented macules; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Diarrhea; Dyspareunia; Easy fatigability; Elevated circulating parathyroid hormone level; Episodic abdominal pain; Esophagitis; Fasting hyperinsulinemia; Fatigue; Female hypogonadism; Fluctuations in consciousness; Galactorrhea; Generalized muscle weakness; Generalized osteoporosis; Glucagonoma; Growth hormone excess; Gynecomastia; Headache; Hypercalcemia; Hypercalciuria; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperparathyroidism; Hyperphosphaturia; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypophosphatemia; Hypotension; Impotence; Increased body weight; Increased circulating cortisol level; Infantile hypercalcemia; Insulinoma; Male hypogonadism; Nephrocalcinosis; Nonketotic hypoglycemia; Osteopenia; Osteoporosis; Pallor; Palpitations; Parathyroid adenoma; Parathyroid hyperplasia; Peptic ulcer; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary hypothyroidism; Pituitary null cell adenoma; Pituitary prolactin cell adenoma; Polyphagia; Primary hyperparathyroidism; Progressive visual loss; Prolactinoma; Reactive hypoglycemia; Recurrent hypoglycemia; Secondary growth hormone deficiency; Seizures; Subcutaneous lipoma; Thyroid adenoma; Transient global amnesia; Tremor; Vomiting; Zollinger-Ellison syndromeEctodermal Dysplasia
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
MLH13p22.299.99%gene with protein product120436COCA2Abdominal pain; Abnormality of abdomen morphology; Adenoma sebaceum; Anxiety; Astrocytoma; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary freckling; Basal cell carcinoma; Benign gastrointestinal tract tumors; Benign genitourinary tract neoplasm; Breast carcinoma; Cafe-au-lait spot; Colon cancer; Colonic diverticula; Constipation; Death in early adulthood; Death in infancy; Depressivity; Duodenal adenocarcinoma; Ependymoma; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hypermelanotic macule; Hypertonia; Increased intracranial pressure; Irritability; Laryngeal carcinoma; Leukemia; Lymphoma; Malabsorption; Malignant genitourinary tract tumor; Medulloblastoma; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Neoplasm of the stomach; Neuroblastoma; Rhabdomyosarcoma; Sebaceous gland carcinoma; Seizures; Weight loss
MLH314q24.399.99%gene with protein product604395Abdominal pain; Anxiety; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hereditary nonpolyposis colorectal carcinoma; Hypertonia; Increased intracranial pressure; Irritability; Malabsorption; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Seizures; Weight loss
MLX17q21.1100%gene with protein product602976TCFL4Abnormal aortic valve morphology; Abnormal pattern of respiration; Anemia; Anorexia; Arthritis; Ascending tubular aorta aneurysm; Chest pain; Fatigue; Fever; Gangrene; Hyperhidrosis; Hypertensive crisis; Hypertrophic cardiomyopathy; Inflammatory abnormality of the eye; Migraine; Muscle weakness; Myalgia; Myocardial infarction; Pulmonary arterial hypertension; Seizures; Skin ulcer; Subcutaneous nodule; Vasculitis; Weight loss
MMACHC1p34.1100%gene with protein product609831Abnormality of extrapyramidal motor function; Anorexia; Autosomal recessive inheritance; Cerebral cortical atrophy; Confusion; Cystathioninemia; Cystathioninuria; Decreased adenosylcobalamin; Decreased methionine synthase activity; Decreased methylcobalamin; Decreased methylmalonyl-CoA mutase activity; Dementia; Failure to thrive; Fatigue; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hematuria; Hemolytic-uremic syndrome; High forehead; Homocystinuria; Hydrocephalus; Hyperhomocystinemia; Hypomethioninemia; Infantile onset; Intellectual disability; Lethargy; Long face; Low-set ears; Macrotia; Megaloblastic anemia; Megaloblastic bone marrow; Metabolic acidosis; Methylmalonic acidemia; Methylmalonic aciduria; Microcephaly; Nephropathy; Neutropenia; Nystagmus; Pallor; Pigmentary retinopathy; Proteinuria; Reduced visual acuity; Renal insufficiency; Retinopathy; Seizures; Smooth philtrum; Thrombocytopenia; Thromboembolism; Tremor; Visual impairment
MMADHC2q23.299.96%gene with protein product611935C2orf25Anorexia; Autosomal recessive inheritance; Behavioral abnormality; Cerebral cortical atrophy; Decreased adenosylcobalamin; Decreased methionine synthase activity; Decreased methylcobalamin; Decreased methylmalonyl-CoA mutase activity; Dystonia; Failure to thrive; Fatigue; Gait disturbance; Generalized hypotonia; Global developmental delay; Homocystinuria; Hyperhomocystinemia; Hypomethioninemia; Increased mean corpuscular volume; Infantile onset; Intellectual disability; Lethargy; Megaloblastic anemia; Megaloblastic bone marrow; Methylmalonic acidemia; Methylmalonic aciduria; Nystagmus; Pallor; Seizures; Spastic ataxia
MPL1p34.2100%gene with protein product159530Abdominal pain; Abnormal bleeding; Abnormal form of the vertebral bodies; Abnormal hemoglobin; Abnormal platelet morphology; Acute leukemia; Amaurosis fugax; Amegakaryocytic thrombocytopenia; Anemia; Angina pectoris; Arterial thrombosis; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Cerebellar vermis hypoplasia; Chest pain; Coarse facial features; Epistaxis; Fatigue; Gingival bleeding; Headache; Hepatomegaly; Hyperhidrosis; Increased megakaryocyte count; Megakaryocytopenia; Melanocytic nevus; Myelodysplasia; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Pancytopenia; Paresthesia; Peripheral arterial stenosis; Prolonged bleeding time; Pruritus; Respiratory insufficiency; Scoliosis; Short neck; Short stature; Somatic mutation; Splenomegaly; Thrombocytopenia; Thrombocytosis; Tinnitus; Transient ischemic attack; Venous thrombosis; Vertigo; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
MSH22p21-p16.399.98%gene with protein productThe published inversion of exons 1-7 is not evaluated by XomeDxSlice but can be ordered separately: https://www.genedx.com/test-catalog/available-tests/msh2-exons-1-7-inversion-analysis/609309COCA1Abdominal pain; Abnormality of abdomen morphology; Adenoma sebaceum; Anxiety; Astrocytoma; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary freckling; Basal cell carcinoma; Benign gastrointestinal tract tumors; Benign genitourinary tract neoplasm; Breast carcinoma; Cafe-au-lait spot; Colon cancer; Colonic diverticula; Constipation; Death in early adulthood; Death in infancy; Depressivity; Duodenal adenocarcinoma; Ependymoma; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hypermelanotic macule; Hypertonia; Increased intracranial pressure; Irritability; Laryngeal carcinoma; Leukemia; Lymphoma; Malabsorption; Malignant genitourinary tract tumor; Medulloblastoma; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Neoplasm of the stomach; Neuroblastoma; Rhabdomyosarcoma; Sebaceous gland carcinoma; Seizures; Weight loss
MSH62p16.3100%gene with protein product600678GTBPAbdominal pain; Abnormality of abdomen morphology; Adenoma sebaceum; Anxiety; Astrocytoma; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary freckling; Basal cell carcinoma; Cafe-au-lait spot; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Endometrial carcinoma; Ependymoma; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hereditary nonpolyposis colorectal carcinoma; Hypermelanotic macule; Hypertonia; Incomplete penetrance; Increased intracranial pressure; Irritability; Leukemia; Lymphoma; Malabsorption; Medulloblastoma; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Neoplasm of the stomach; Neuroblastoma; Rhabdomyosarcoma; Seizures; Weight loss
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
NEFH22q12.2100%gene with protein product162230Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Depressivity; Distal sensory impairment; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frequent falls; Generalized muscle weakness; Hyporeflexia; Increased variability in muscle fiber diameter; Muscle cramps; Muscle fiber splitting; Myopathy; Neurodegeneration; Pain; Paralysis; Pes cavus; Progressive; Pyloric stenosis; Ragged-red muscle fibers; Respiratory failure; Rimmed vacuoles; Sensory axonal neuropathy; Skeletal muscle atrophy; Spasticity; Variable expressivity; Waddling gait; Xerostomia
NEK14q3399.77%gene with protein product604588Ambiguous genitalia; Amyotrophic lateral sclerosis; Anxiety; Autosomal recessive inheritance; Cleft palate; Depressivity; Digenic inheritance; Disproportionate shortening of the tibia; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Hamartoma of tongue; Horizontal ribs; Hydrops fetalis; Hypoplasia of the epiglottis; Lateral clavicle hook; Median cleft lip; Muscle cramps; Narrow chest; Neurodegeneration; Pain; Paralysis; Polycystic kidney dysplasia; Polysyndactyly of hallux; Postaxial hand polydactyly; Postaxial polysyndactyly of foot; Preaxial hand polydactyly; Pulmonary hypoplasia; Respiratory failure; Short ribs; Skeletal muscle atrophy; Spasticity; Thoracic dysplasia; XerostomiaDisorders of Sex Development; Short-Rib Thoracic Dysplasia
NFKB210q24.3299.99%gene with protein product164012Abnormal size of pituitary gland; Abnormality of the periungual region; Adrenocorticotropin deficient adrenal insufficiency; Anal atresia; Asthma; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Brachycephaly; Bronchiectasis; Central adrenal insufficiency; Chronic otitis media; Decreased antibody level in blood; Decreased circulating ACTH level; Decreased circulating cortisol level; Elevated hepatic transaminases; Fatigue; Hemolytic anemia; Hypoglycemic coma; Hyponatremia; Hypotension; Immunodeficiency; Lymphadenopathy; Lymphopenia; Nail dystrophy; Pneumonia; Purpura; Recurrent bronchitis; Recurrent hypoglycemia; Recurrent otitis media; Recurrent pharyngitis; Recurrent pneumonia; Recurrent respiratory infections; Recurrent sinusitis; Severe B lymphocytopenia; Severe viral infections; Splenomegaly; Variable expressivityAutoimmune Disorders ; Common Variable Immune Deficiency
NKX2-114q13.3100%gene with protein product600635NKX2A, BCH, TITF1Abdominal distention; Anxiety; Ataxia; Atrial septal defect; Autosomal dominant inheritance; Chorea; Choreoathetosis; Coarse facial features; Compensated hypothyroidism; Congenital hypothyroidism; Congenital onset; Constipation; Difficulty walking; Dysarthria; Dystonia; Fatigue; Feeding difficulties; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypersomnia; Hypothyroidism; Increased thyroid-stimulating hormone level; Intellectual disability, severe; Juvenile onset; Large fontanelles; Macroglossia; Motor delay; Muscle weakness; Muscular hypotonia; Neonatal respiratory distress; Phenotypic variability; Recurrent respiratory infections; Respiratory distress; Short stature; Thyroid agenesis; Ventricular septal defect
NKX2-55q34100%gene with protein product600584CSX, NKX2EAbdominal distention; Abnormal cardiac septum morphology; Abnormal nasal morphology; Abnormality of metabolism/homeostasis; Aortic arch aneurysm; Aortic regurgitation; Aortic valve atresia; Aortic valve calcification; Aortic valve stenosis; Arrhythmia; Atrial fibrillation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicuspid aortic valve; Brachydactyly; Broad forehead; Broad hallux; Bundle branch block; Clinodactyly of the 5th finger; Coarctation of aorta; Coarse facial features; Complete atrioventricular canal defect; Congenital hypothyroidism; Constipation; Cryptorchidism; Dolichocephaly; Double outlet right ventricle; Ectopic thyroid; Fatigue; Feeding difficulties; Global developmental delay; Growth delay; Heart murmur; Hypersomnia; Hypertension; Hypoplastic aortic arch; Hypoplastic left heart; Hypothyroidism; Intellectual disability, progressive; Intellectual disability, severe; Intrauterine growth retardation; Jaundice; Large fontanelles; Macroglossia; Mitral atresia; Muscle weakness; Muscular hypotonia; Postaxial polydactyly; Preauricular pit; Prolonged PR interval; Proptosis; Secundum atrial septal defect; Short stature; Tetralogy of Fallot; Thin vermilion border; Thoracic aorta calcification; Thyroid agenesis; Thyroid hypoplasia; Transposition of the great arteries; Truncus arteriosus; Umbilical hernia; Underdeveloped supraorbital ridges; Ventricular septal defectHeterotaxy
NLRC42p22.399.94%gene with protein product606831CARD12Abnormal thrombocyte morphology; Abnormality of neutrophils; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Delayed closure of the anterior fontanelle; Disseminated intravascular coagulation; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Enterocolitis; Episodic; Erythema; Failure to thrive; Fatigue; Fever; Frontal bossing; Headache; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Increased serum ferritin; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Pancytopenia; Papule; Proptosis; Pruritus; Pseudopapilledema; Sensorineural hearing impairment; Short stature; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisInflammatory Bowel Disease
NLRC42p22.399.94%gene with protein product606831CARD12Abnormal thrombocyte morphology; Abnormality of neutrophils; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Delayed closure of the anterior fontanelle; Disseminated intravascular coagulation; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Enterocolitis; Episodic; Erythema; Failure to thrive; Fatigue; Fever; Frontal bossing; Headache; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Increased serum ferritin; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Pancytopenia; Papule; Proptosis; Pruritus; Pseudopapilledema; Sensorineural hearing impairment; Short stature; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisInflammatory Bowel Disease
NLRP31q44100%gene with protein product606416C1orf7, CIAS1Abdominal pain; Abnormal thrombocyte morphology; Abnormality of neutrophils; Abnormality of the skin; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Broad foot; Conjunctivitis; Cranial nerve paralysis; Delayed closure of the anterior fontanelle; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Episcleritis; Episodic fever; Erythema; Fatigue; Fever; Frontal bossing; Growth delay; Headache; Hearing impairment; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Infantile onset; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Papule; Progressive sensorineural hearing impairment; Proptosis; Pruritus; Pseudopapilledema; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Sensorineural hearing impairment; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisPrimary Immunodeficiency
NLRP31q44100%gene with protein product606416C1orf7, CIAS1Abdominal pain; Abnormal thrombocyte morphology; Abnormality of neutrophils; Abnormality of the skin; Anemia; Arthralgia; Arthritis; Autosomal dominant inheritance; Brachydactyly; Broad foot; Conjunctivitis; Cranial nerve paralysis; Delayed closure of the anterior fontanelle; Dysesthesia; Edema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Episcleritis; Episodic fever; Erythema; Fatigue; Fever; Frontal bossing; Growth delay; Headache; Hearing impairment; Hepatomegaly; Hyperhidrosis; Increased intracranial pressure; Infantile onset; Joint dislocation; Leukocytosis; Lymphadenopathy; Macrocephaly; Meningitis; Migraine; Myalgia; Nausea and vomiting; Nephropathy; Nephrotic syndrome; Papule; Progressive sensorineural hearing impairment; Proptosis; Pruritus; Pseudopapilledema; Recurrent aphthous stomatitis; Renal amyloidosis; Renal insufficiency; Sensorineural hearing impairment; Skeletal dysplasia; Skin rash; Splenomegaly; Urticaria; UveitisPrimary Immunodeficiency
NR3C15q31.3100%gene with protein product138040GRLAbnormal serum testosterone level; Acne; Adrenal hyperplasia; Autosomal dominant inheritance; Decreased circulating aldosterone level; Fatigue; Hirsutism; Hypertension; Hypoglycemia; Hypokalemia; Increased circulating ACTH level; Increased circulating cortisol level; Increased urinary cortisol level; Metabolic alkalosis; Oligomenorrhea
NR3C15q31.3100%gene with protein product138040GRLAbnormal serum testosterone level; Acne; Adrenal hyperplasia; Autosomal dominant inheritance; Decreased circulating aldosterone level; Fatigue; Hirsutism; Hypertension; Hypoglycemia; Hypokalemia; Increased circulating ACTH level; Increased circulating cortisol level; Increased urinary cortisol level; Metabolic alkalosis; Oligomenorrhea
OPTN10p13100%gene with protein product602432GLC1EAmyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Depressivity; Dysarthria; Dysphagia; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Muscle weakness; Myopia; Neurodegeneration; Open angle glaucoma; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Tongue fasciculations; Xerostomia
OTX214q22.3100%gene with protein product600037Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the cranial nerves; Absent nares; Agenesis of corpus callosum; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the breasts; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Cataract; Cleft palate; Coloboma; Cryptorchidism; Cyclopia; Decreased circulating ACTH level; Decreased testicular size; Depressed nasal ridge; Ectopic posterior pituitary; Fatigue; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; Holoprosencephaly; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypotension; Infertility; Joint laxity; Low-set, posteriorly rotated ears; Mandibular aplasia; Microcornea; Microglossia; Microphthalmia; Narrow internal auditory canal; Narrow mouth; Nystagmus; Osteopenia; Pituitary hypothyroidism; Polyhydramnios; Respiratory distress; Retinal dystrophy; Seizures; Septo-optic dysplasia; Short stature; Situs inversus totalis; Strabismus; Synotia; Visual impairmentHeterotaxy
PAX82q14.1100%gene with protein product167415Abdominal distention; Autosomal dominant inheritance; Bradycardia; Coarse facial features; Congenital hypothyroidism; Constipation; Delayed skeletal maturation; Dry skin; Ectopic thyroid; Fatigue; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Goiter; Growth delay; Hoarse cry; Hyperbilirubinemia; Hypersomnia; Hypothermia; Hypothyroidism; Increased thyroid-stimulating hormone level; Intellectual disability, severe; Jaundice; Large fontanelles; Large posterior fontanelle; Lethargy; Macroglossia; Muscle weakness; Muscular hypotonia; Short stature; Stridor; Thyroid agenesis; Thyroid hypoplasia; Umbilical hernia
PAX82q14.1100%gene with protein product167415Abdominal distention; Autosomal dominant inheritance; Bradycardia; Coarse facial features; Congenital hypothyroidism; Constipation; Delayed skeletal maturation; Dry skin; Ectopic thyroid; Fatigue; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Goiter; Growth delay; Hoarse cry; Hyperbilirubinemia; Hypersomnia; Hypothermia; Hypothyroidism; Increased thyroid-stimulating hormone level; Intellectual disability, severe; Jaundice; Large fontanelles; Large posterior fontanelle; Lethargy; Macroglossia; Muscle weakness; Muscular hypotonia; Short stature; Stridor; Thyroid agenesis; Thyroid hypoplasia; Umbilical hernia
PDE11A2q31.299.8%gene with protein product604961Adrenal hyperplasia; Agitation; Anxiety; Autosomal dominant inheritance; Bruising susceptibility; Decreased circulating ACTH level; Depressivity; Diabetes mellitus; Fatigue; Hypertension; Hypogonadism; Increased susceptibility to fractures; Kyphosis; Mental deterioration; Mood changes; Muscle weakness; Onset; Osteopenia; Osteoporosis; Paradoxical increased cortisol secretion on dexamethasone suppression test; Pigmented micronodular adrenocortical disease; Primary hypercorticolism; Psychosis; Round face; Short stature; Skeletal muscle atrophy; Slender build; Striae distensae; Thin skin; Truncal obesityObesity
PDE8B5q13.399.96%gene with protein product603390Adrenal hyperplasia; Autosomal dominant inheritance; Bradykinesia; Degeneration of the striatum; Diabetes mellitus; Dysarthria; Dysdiadochokinesis; Dysphagia; Fatigue; Gait disturbance; Hypertension; Hypogonadism; Hypokinesia; Increased circulating cortisol level; Increased susceptibility to fractures; Lower limb hyperreflexia; Muscle weakness; Osteoporosis; Pigmented micronodular adrenocortical disease; Rigidity; Short stature; Skeletal muscle atrophy; Slender build; Slow progression; Striae distensae; Symmetric lesions of the basal ganglia; Thin skin
PDGFRA4q1299.88%gene with protein product173490Abnormality of the nervous system; Autosomal dominant inheritance; Constipation; Dysphagia; Endocardial fibrosis; Eosinophilia; Fatigue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Hepatomegaly; Hyperpigmentation of the skin; Intestinal obstruction; Large hands; Myalgia; Myeloproliferative disorder; Nausea and vomiting; Neoplasm of the stomach; Neurofibromas; Pruritus; Pulmonary infiltrates; Restrictive cardiomyopathy; Sarcoma; Somatic mutation; Splenomegaly; Sporadic; Urticaria; Venous thrombosis
PFN117p13.2100%gene with protein product176610Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Depressivity; Dysarthria; Dysphagia; Dyspnea; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Muscle weakness; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
PIGAXp22.299.91%gene with protein product311770Abnormality of skin morphology; Abnormality of the pons; Absent septum pellucidum; Absent speech; Anteverted nares; Atrial septal defect; Birth length greater than 97th percentile; Bone marrow hypocellularity; Central hypotonia; Cerebellar hypoplasia; Cerebral cortical atrophy; Coarse facial features; Cortical visual impairment; Death in infancy; Delayed myelination; Depressed nasal bridge; Developmental regression; Downturned corners of mouth; Epileptic encephalopathy; Fatigue; Flexion contracture; Generalized myoclonic seizures; Gingival overgrowth; Hearing impairment; Hemolytic anemia; High palate; Hypercoagulability; Hyperreflexia; Hypertelorism; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile spasms; Large fontanelles; Large for gestational age; Macrocephaly; Malar flattening; Microdontia; Micrognathia; Micropenis; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Neuronal loss in central nervous system; Olfactory lobe agenesis; Overfolded helix; Overgrowth; Paroxysmal nocturnal hemoglobinuria; Postnatal microcephaly; Prominent occiput; Short neck; Small nail; Somatic mutation; Thromboembolism; Triangular mouth; Upslanted palpebral fissure; Variable expressivity; Widely spaced teeth; X-linked recessive inheritance
PIGT20q13.12100%gene with protein product610272Abdominal pain; Abnormality of the dentition; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Cerebellar hypoplasia; Cerebral atrophy; Deep philtrum; Delayed skeletal maturation; Depressed nasal bridge; Diarrhea; Downturned corners of mouth; Dyspnea; EEG abnormality; Fatigue; Generalized hypotonia; Global developmental delay; Headache; Hemolytic anemia; High forehead; High palate; Hypercalciuria; Hypermetropia; Hypoplasia of the ulna; Infantile onset; Inverted nipples; Large for gestational age; Long philtrum; Macrocephaly; Narrow forehead; Nephrocalcinosis; Nystagmus; Open mouth; Osteopenia; Osteoporosis; Paroxysmal nocturnal hemoglobinuria; Patent ductus arteriosus; Pectus excavatum; Renal cyst; Restrictive cardiomyopathy; Scoliosis; Seizures; Somatic mutation; Strabismus; Ureteral stenosis; Urticaria; Visual impairment
PIK3CA3q26.3299.76%gene with protein product171834Abdominal pain; Abnormality of cardiovascular system morphology; Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system; Abnormality of the cerebral vasculature; Abnormality of the penis; Adenoma sebaceum; Adult onset; Alveolar cell carcinoma; Angioid streaks of the fundus; Anxiety; Aplasia/Hypoplasia of the cerebellum; Arteriovenous malformation; Asymmetric growth; Ataxia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast carcinoma; Broad forehead; Capillary malformation; Cataract; Cavernous hemangioma; Cavum septum pellucidum; Cognitive impairment; Colon cancer; Colonic diverticula; Colorectal polyposis; Conjunctival hamartoma; Constipation; Cranial hyperostosis; Cutis marmorata; Death in early adulthood; Death in infancy; Depressed nasal bridge; Depressivity; Downslanted palpebral fissures; Dysgerminoma; Epicanthus; Facial asymmetry; Failure to thrive; Fatigue; Fibroadenoma of the breast; Finger syndactyly; Foot polydactyly; Frontal bossing; Full cheeks; Furrowed tongue; Gastrointestinal hemorrhage; Generalized hyperkeratosis; Generalized hypotonia; Glioblastoma multiforme; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hand polydactyly; Hearing impairment; Hemihypertrophy; Hepatocellular carcinoma; Hereditary nonpolyposis colorectal carcinoma; Hernia; Heterogeneous; High forehead; High palate; Hydrocele testis; Hydrocephalus; Hypermelanotic macule; Hypertelorism; Hyperthyroidism; Hypertonia; Hypoplasia of the maxilla; Hypothyroidism; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intention tremor; Irritability; Joint hyperflexibility; Joint laxity; Kyphosis; Large earlobe; Leukemia; Lipoma; Macrocephaly; Macrodactyly; Macroglossia; Macule; Malabsorption; Megalencephaly; Melanocytic nevus; Meningioma; Micrognathia; Micronodular cirrhosis; Microphthalmia; Migraine; Mucosal telangiectasiae; Muscular hypotonia; Myopia; Narrow mouth; Nausea and vomiting; Neoplasm of the rectum; Neoplasm of the stomach; Nephroblastoma; Nevus flammeus; Numerous nevi; Ovarian cyst; Ovarian papillary adenocarcinoma; Overgrowth; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Polydactyly; Polymicrogyria; Progressive macrocephaly; Renal cell carcinoma; Sandal gap; Scoliosis; Seizures; Skin tags; Smooth philtrum; Somatic mutation; Splenomegaly; Sporadic; Stomach cancer; Subacute progressive viral hepatitis; Subcutaneous lipoma; Subcutaneous nodule; Syndactyly; Telangiectasia of the skin; Thyroid adenoma; Thyroiditis; Toe syndactyly; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Varicocele; Venous malformation; Ventricular septal defect; Ventriculomegaly; Verrucae; Visceral angiomatosis; Weight loss; Wide mouth
PIK3R15q13.199.16%gene with protein product171833Abnormal pupil morphology; Abnormality of dental enamel; Abnormality of the immune system; Agammaglobulinemia; Alopecia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Birth length less than 3rd percentile; Cataract; Chronic otitis media; Clinodactyly; Conjunctivitis; Cough; Decreased antibody level in blood; Deeply set eye; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Dental malocclusion; Diabetes mellitus; Diarrhea; Dimple chin; Downturned corners of mouth; Enlarged epiphyses; Excessive wrinkled skin; Failure to thrive; Fatigue; Fever; Frontal bossing; Glaucoma; Glucose intolerance; Hyperglycemia; Hypodontia; Hypoplasia of the iris; Hypotrichosis; Immunodeficiency; Infantile onset; Inguinal hernia; Insulin resistance; Insulin-resistant diabetes mellitus; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Lipoatrophy; Lipodystrophy; Macrotia; Megalocornea; Microdontia; Micrognathia; Midface retrusion; Myopia; Neurological speech impairment; Neutropenia; Osteomyelitis; Poor appetite; Premature skin wrinkling; Prominent forehead; Radial deviation of finger; Recurrent bacterial infections; Recurrent respiratory infections; Recurrent skin infections; Rieger anomaly; Sensorineural hearing impairment; Severe short stature; Sinusitis; Skin rash; Small for gestational age; Telecanthus; Thin skin; Triangular face; Underdeveloped nasal alae; Weight loss; Wide nasal bridgeAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
PMS12q32.299.63%gene with protein product600258PMSL1Abdominal pain; Anxiety; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hypertonia; Increased intracranial pressure; Irritability; Malabsorption; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Seizures; Weight loss
PMS27p22.196.7%gene with protein product600259PMSL2Abdominal pain; Abnormality of abdomen morphology; Anxiety; Astrocytoma; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary freckling; Basal cell carcinoma; Cafe-au-lait spot; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Endometrial carcinoma; Ependymoma; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hereditary nonpolyposis colorectal carcinoma; Hypermelanotic macule; Hypertonia; Increased intracranial pressure; Irritability; Leukemia; Lymphoma; Malabsorption; Medulloblastoma; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Neuroblastoma; Ovarian neoplasm; Rhabdomyosarcoma; Seizures; Weight loss
POMGNT11p34.198.2%gene with protein product606822MEBAbnormal aldolase level; Abnormal electroretinogram; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Anteverted nares; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Coloboma; Conductive hearing impairment; Congenital muscular dystrophy; Congenital myopia; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased light- and dark-adapted electroretinogram amplitude; Difficulty climbing stairs; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Enlarged flash visual evoked potentials; Everted lower lip vermilion; Fatigue; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperinsulinemia; Hyperlordosis; Hypertonia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the pons; Hypoplasia of the retina; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Keratoconus; Lissencephaly; Macrocephaly; Macrogyria; Malar flattening; Megalocornea; Metatarsus valgus; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myoclonus; Myopathy; Myopia; Neurological speech impairment; Nyctalopia; Nystagmus; Obesity; Opacification of the corneal stroma; Ophthalmoplegia; Optic atrophy; Pachygyria; Pallor; Phenotypic variability; Photophobia; Polymicrogyria; Progressive; Progressive night blindness; Reduced visual acuity; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short nasal bridge; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Spasticity; Specific learning disability; Strabismus; Type II lissencephaly; Uncontrolled eye movements; Undetectable electroretinogram; Ventriculomegaly; Visual impairment; Wide nasal bridgeMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
PON17q21.399.99%gene with protein product168820PONAmyotrophic lateral sclerosis; Anxiety; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
PON27q21.399.94%gene with protein product602447Amyotrophic lateral sclerosis; Anxiety; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
PON37q21.3100%gene with protein product602720Amyotrophic lateral sclerosis; Anxiety; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
POU1F13p11.299.93%gene with protein product173110PIT1Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Anteverted nares; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Decreased circulating ACTH level; Decreased testicular size; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Fatigue; Feeding difficulties; Frontal bossing; Generalized hypotonia; Global developmental delay; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypotension; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Macroglossia; Malar flattening; Midface retrusion; Muscular hypotonia; Oral cleft; Osteopenia; Pituitary hypothyroidism; Prolonged neonatal jaundice; Prominent forehead; Septo-optic dysplasia; Severe postnatal growth retardation; Short nose; Short stature; Sleep disturbance; Umbilical hernia
POU1F13p11.299.93%gene with protein product173110PIT1Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Anteverted nares; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Decreased circulating ACTH level; Decreased testicular size; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Fatigue; Feeding difficulties; Frontal bossing; Generalized hypotonia; Global developmental delay; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypotension; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Macroglossia; Malar flattening; Midface retrusion; Muscular hypotonia; Oral cleft; Osteopenia; Pituitary hypothyroidism; Prolonged neonatal jaundice; Prominent forehead; Septo-optic dysplasia; Severe postnatal growth retardation; Short nose; Short stature; Sleep disturbance; Umbilical hernia
PPARGC1A4p15.299.98%gene with protein product604517PPARGC1Amyotrophic lateral sclerosis; Anxiety; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
PREPL2p2199.77%gene with protein product609557Autosomal recessive inheritance; Congenital onset; Cystinuria; Decreased fetal movement; Depressed nasal bridge; Dolichocephaly; Epicanthus; Failure to thrive; Fatigue; Feeding difficulties; Frontal bossing; Generalized hypotonia; Global developmental delay; Growth delay; Growth hormone deficiency; Hypocalcemia; Hypogonadism; Intellectual disability, moderate; Lactic acidosis; Long eyelashes; Low-set, posteriorly rotated ears; Mitochondrial respiratory chain defects; Motor delay; Muscular hypotonia; Nasal speech; Nephrolithiasis; Polyphagia; Ptosis; Retrognathia; Seizures; Short stature; Tented upper lip vermilion
PRKACA19p13.1100%gene with protein product601639Acne; Adrenal hyperplasia; Alopecia; Autosomal dominant inheritance; Bruising susceptibility; Depressivity; Diabetes mellitus; Dorsocervical fat pad; Emotional lability; Fatigue; Fragile skin; Hirsutism; Hypertension; Hypogonadism; Increased body weight; Increased susceptibility to fractures; Moon facies; Muscle weakness; Osteopenia; Osteoporosis; Pigmented micronodular adrenocortical disease; Primary hypercorticolism; Proximal muscle weakness; Short stature; Skeletal muscle atrophy; Slender build; Striae distensae; Thin skin
PRKAR1A17q24.2100%gene with protein product188830PRKAR1, TSE1Abnormal form of the vertebral bodies; Abnormal prolactin level; Abnormality of circulating adrenocorticotropin level; Abnormality of female external genitalia; Abnormality of immune system physiology; Abnormality of the eye; Abnormality of the nail; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Adrenal hyperplasia; Agitation; Anteverted nares; Anxiety; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bacterial endocarditis; Blue irides; Blue nevus; Brachycephaly; Brachydactyly; Broad nasal tip; Broad palm; Bruising susceptibility; Calvarial hyperostosis; Cardiac myxoma; Cerebral venous thrombosis; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Congenital craniofacial dysostosis; Congenital hypothyroidism; Congestive heart failure; Cryptorchidism; Decreased circulating ACTH level; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Depressivity; Diabetes mellitus; Dislocated radial head; Disproportionate short-limb short stature; Easy fatigability; Elevated calcitonin; Elevated circulating parathyroid hormone level; Enlarged polycystic ovaries; Epicanthus; Epiphyseal stippling; Exertional dyspnea; Fatigue; Freckling; Global developmental delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Heart murmur; Heterogeneous; Hirsutism; Hydrocephalus; Hyperactivity; Hyperphosphatemia; Hypertelorism; Hypertension; Hypocalcemia; Hypodontia; Hypogonadism; Hypoplasia of the maxilla; Hypoplasia of the nasal bone; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic vertebral bodies; Hypospadias; Increased circulating cortisol level; Increased intracranial pressure; Increased susceptibility to fractures; Increased urinary cortisol level; Intellectual disability; Intrauterine growth retardation; Kyphosis; Long hallux; Malar flattening; Mandibular prognathia; Melanocytic nevus; Menstrual irregularities; Mental deterioration; Micromelia; Midface retrusion; Mild postnatal growth retardation; Mild short stature; Mood changes; Multiple lentigines; Muscle weakness; Myxoid subcutaneous tumors; Narrow vertebral interpedicular distance; Neonatal epiphyseal stippling; Nevus; Obesity; Onset; Open mouth; Optic atrophy; Osteopenia; Osteoporosis; Paradoxical increased cortisol secretion on dexamethasone suppression test; Peripheral neuropathy; Peripheral Schwannoma; Pheochromocytoma; Pigmented micronodular adrenocortical disease; Pituitary adenoma; Pituitary growth hormone cell adenoma; Primary hypercorticolism; Profuse pigmented skin lesions; Pseudohypoparathyroidism; Psychosis; Pulmonic valve myxoma; Red hair; Round face; Schwannoma; Scoliosis; Short metacarpal; Short metatarsal; Short nose; Short palm; Short phalanx of finger; Short stature; Short toe; Skeletal muscle atrophy; Slender build; Specific learning disability; Spinal canal stenosis; Strabismus; Striae distensae; Thin skin; Thyroid adenoma; Thyroid carcinoma; Thyroid follicular hyperplasia; Truncal obesity; Vestibular Schwannoma; Wide nasal bridgeHeterotaxy ; Obesity
PROP15q35.399.9%gene with protein product601538Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Adrenal insufficiency; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Decreased circulating ACTH level; Decreased testicular size; Depressed nasal ridge; Fatigue; Feeding difficulties; Global developmental delay; Hypoglycemia; Hypoglycemic seizures; Hypogonadism; Hypogonadotrophic hypogonadism; Hypotension; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Muscular hypotonia; Neonatal hypoglycemia; Oral cleft; Osteopenia; Panhypopituitarism; Pituitary hypothyroidism; Prolactin deficiency; Septo-optic dysplasia; Short stature; Sleep disturbance; Umbilical herniaDisorders of Sex Development
PROP15q35.399.9%gene with protein product601538Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Adrenal insufficiency; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Decreased circulating ACTH level; Decreased testicular size; Depressed nasal ridge; Fatigue; Feeding difficulties; Global developmental delay; Hypoglycemia; Hypoglycemic seizures; Hypogonadism; Hypogonadotrophic hypogonadism; Hypotension; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Muscular hypotonia; Neonatal hypoglycemia; Oral cleft; Osteopenia; Panhypopituitarism; Pituitary hypothyroidism; Prolactin deficiency; Septo-optic dysplasia; Short stature; Sleep disturbance; Umbilical herniaDisorders of Sex Development
PROP15q35.399.9%gene with protein product601538Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Adrenal insufficiency; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal recessive inheritance; Central hypothyroidism; Coarse facial features; Constipation; Decreased circulating ACTH level; Decreased testicular size; Depressed nasal ridge; Fatigue; Feeding difficulties; Global developmental delay; Hypoglycemia; Hypoglycemic seizures; Hypogonadism; Hypogonadotrophic hypogonadism; Hypotension; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Muscular hypotonia; Neonatal hypoglycemia; Oral cleft; Osteopenia; Panhypopituitarism; Pituitary hypothyroidism; Prolactin deficiency; Septo-optic dysplasia; Short stature; Sleep disturbance; Umbilical herniaDisorders of Sex Development
PRPH12q13.12100%gene with protein product170710NEF4Amyotrophic lateral sclerosis; Anxiety; Depressivity; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
PRTN319p13.3100%gene with protein product177020Abdominal pain; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Arthralgia; Autoimmunity; Cerebral ischemia; Chest pain; Chronic obstructive pulmonary disease; Cough; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glomerulopathy; Granulomatosis; Hematuria; Hemoptysis; Inflammatory abnormality of the eye; Nausea and vomiting; Papule; Periorbital edema; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Sinusitis; Skin rash; Vasculitis; Weight loss
PSTPIP115q24.399.95%gene with protein product606347Acne; Arthralgia; Arthritis; Autosomal dominant inheritance; Fatigue; Fever; Increased antibody level in blood; Limitation of joint mobility; Lymphadenopathy; Pustule; Pyoderma; Pyoderma gangrenosum; Skin ulcer
PTPN221p13.299.15%gene with protein product600716PTPN8Abdominal pain; Abnormal eyebrow morphology; Abnormality of the eyelashes; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Alopecia; Anorexia; Antinuclear antibody positivity; Apraxia; Arthralgia; Arthritis; Autoimmunity; Cataract; Cerebral ischemia; Chest pain; Chewing difficulties; Chronic obstructive pulmonary disease; Cognitive impairment; Cough; Dental malocclusion; Depressivity; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glaucoma; Glomerulopathy; Granulomatosis; Headache; Hematuria; Hemoptysis; Hypopigmented skin patches; Inflammatory abnormality of the eye; Iridocyclitis; Joint dislocation; Joint stiffness; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Nausea and vomiting; Ophthalmoparesis; Papule; Periorbital edema; Poliosis; Polyarticular arthritis; Premature graying of hair; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Retinal detachment; Sensorineural hearing impairment; Short stature; Sinusitis; Skin rash; Sparse scalp hair; Vasculitis; Visual impairment; Vitiligo; Weight loss
PTPN221p13.299.15%gene with protein product600716PTPN8Abdominal pain; Abnormal eyebrow morphology; Abnormality of the eyelashes; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Alopecia; Anorexia; Antinuclear antibody positivity; Apraxia; Arthralgia; Arthritis; Autoimmunity; Cataract; Cerebral ischemia; Chest pain; Chewing difficulties; Chronic obstructive pulmonary disease; Cognitive impairment; Cough; Dental malocclusion; Depressivity; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Fatigue; Fever; Glaucoma; Glomerulopathy; Granulomatosis; Headache; Hematuria; Hemoptysis; Hypopigmented skin patches; Inflammatory abnormality of the eye; Iridocyclitis; Joint dislocation; Joint stiffness; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Nausea and vomiting; Ophthalmoparesis; Papule; Periorbital edema; Poliosis; Polyarticular arthritis; Premature graying of hair; Proteinuria; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Retinal detachment; Sensorineural hearing impairment; Short stature; Sinusitis; Skin rash; Sparse scalp hair; Vasculitis; Visual impairment; Vitiligo; Weight loss
PTPN39q3199.58%gene with protein product176877Acholic stools; Biliary tract neoplasm; Fatigue; Jaundice; Pruritus
RET10q11.21100%gene with protein product164761HSCR1, MEN2A, MTC1, MEN2BAbdominal pain; Abnormal intestine morphology; Abnormality of cardiovascular system morphology; Abnormality of temperature regulation; Abnormality of the cardiovascular system; Abnormality of the foot; Abnormality of the integument; Abnormality of the mouth; Abnormality of the sacrum; Abnormality of the skin; Adrenal pheochromocytoma; Aganglionic megacolon; Autonomic dysregulation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Breathing dysregulation; Cafe-au-lait spot; Central hypoventilation; Central sleep apnea; Cerebral hemorrhage; Chest pain; Colonic diverticula; Congenital cataract; Congenital onset; Congestive heart failure; Constipation; Death in infancy; Depressed nasal ridge; Diarrhea; Disproportionate tall stature; Downslanted palpebral fissures; Dysautonomia; Dysphonia; Elevated calcitonin; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Epicanthus; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Failure to thrive; Failure to thrive in infancy; Fatigue; Feeding difficulties; Fetal polyuria; Flushing; Ganglioneuroblastoma; Ganglioneuroma; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Glomerulosclerosis; Hemangioma; High, narrow palate; Hypercalcemia; Hyperhidrosis; Hyperlordosis; Hyperparathyroidism; Hypertelorism; Hypertension; Hypertensive retinopathy; Increased circulating cortisol level; Intellectual disability; Intestinal obstruction; Joint laxity; Kyphosis; Low-set ears; Medullary thyroid carcinoma; Muscular hypotonia; Myopathy; Nausea; Nausea and vomiting; Neoplasm; Nodular goiter; Nonketotic hypoglycemia; Oligohydramnios; Palpitations; Paraganglioma of head and neck; Parathyroid adenoma; Parathyroid hyperplasia; Paroxysmal vertigo; Pectus excavatum; Pes cavus; Pheochromocytoma; Positive regitine blocking test; Posteriorly rotated ears; Potter facies; Primary amenorrhea; Proteinuria; Proximal femoral epiphysiolysis; Pulmonary hypoplasia; Pulsatile tinnitus; Recurrent paroxysmal headache; Renal agenesis; Renal artery stenosis; Renal dysplasia; Retrognathia; Scoliosis; Seizures; Sinus tachycardia; Small for gestational age; Strabismus; Tachycardia; Talipes equinovarus; Thick eyebrow; Thick lower lip vermilion; Tracheoesophageal fistula; Urogenital fistula; Vaginal atresia; Weight lossCongenital Kidney and Urinary Tract (CKUT) Anomalies; Inflammatory Bowel Disease
RPL111p36.11100%gene with protein product604175Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Atresia of the external auditory canal; Autosomal dominant inheritance; Choanal atresia; Cleft palate; Delayed puberty; Fatigue; Fetal distress; Hearing impairment; Increased mean corpuscular volume; Intrauterine growth retardation; Macrocytic anemia; Migraine; Neutropenia; Osteopenia; Osteoporosis; Pallor; Patent ductus arteriosus; Polyhydramnios; Recurrent otitis media; Scoliosis; Secundum atrial septal defect; Short thumb; Small hypothenar eminence; Sprengel anomaly; Triphalangeal thumb; Ventricular septal defect; Vitamin D deficiencyAplastic Anemia ; Bone Marrow Failure Syndromes
RPL153p24.282.13%gene with protein product604174Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Elevated red cell adenosine deaminase activity; Fatigue; Macrocytic anemia; Migraine; Normochromic anemia; Pallor; Reticulocytopenia; Triphalangeal thumb; Ventricular septal defectAplastic Anemia ; Bone Marrow Failure Syndromes
RPL1819q13.33100%gene with protein product604179Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Cleft palate; Delayed puberty; Fatigue; Macrocytic anemia; Migraine; Pallor
RPL2617p13.1100%gene with protein product603704Abnormal eyelid morphology; Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Absent thumb; Anemia; Anemia of inadequate production; Arrhythmia; Atresia of the external auditory canal; Autosomal dominant inheritance; Bicuspid aortic valve; Bone marrow hypocellularity; Cleft palate; Delayed puberty; Fatigue; Forearm reduction defects; Hypoplasia of the radius; Hypoplasia of the ulna; Macrocytic anemia; Migraine; Neutropenia; Pallor; Renal agenesis; Short stature; Stenosis of the external auditory canalBone Marrow Failure Syndromes
RPL2717q21100%gene with protein product607526Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Anemia; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Fatigue; Macrocytic anemia; Migraine; Pallor; Pulmonic stenosisAplastic Anemia ; Bone Marrow Failure Syndromes
RPL359q33.3100%gene with protein productAbnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Cleft palate; Delayed puberty; Fatigue; Macrocytic anemia; Migraine; PallorAplastic Anemia ; Bone Marrow Failure Syndromes
RPL35A3q29100%gene with protein product180468Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Erythroid hypoplasia; Fatigue; Global developmental delay; Hypertelorism; Hypospadias; Infantile onset; Leukopenia; Low-set ears; Macrocytic anemia; Migraine; Pallor; Reticulocytopenia; Short stature; Ventricular septal defectAplastic Anemia ; Bone Marrow Failure Syndromes
RPL51p22.1100%gene with protein product603634Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Autosomal dominant inheritance; Bifid uvula; Cleft palate; Cleft upper lip; Delayed puberty; Failure to thrive; Fatigue; Growth delay; Hypertelorism; Increased mean corpuscular volume; Macrocytic anemia; Micrognathia; Migraine; Mitral regurgitation; Mitral valve prolapse; Pallor; Patent ductus arteriosus; Persistence of hemoglobin F; Short thumb; Tetralogy of Fallot; Tracheomalacia; Ventricular hypertrophy; Ventricular septal defectAplastic Anemia ; Bone Marrow Failure Syndromes
RPS106p21.31100%gene with protein product603632Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Anemia; Arrhythmia; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Fatigue; Growth delay; Macrocytic anemia; Migraine; Pallor; Vitamin D deficiencyAplastic Anemia ; Bone Marrow Failure Syndromes
RPS1715q25.293.47%gene with protein product180472RPS17LAbnormal facial shape; Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Erythroid hypoplasia; Fatigue; Macrocytic anemia; Migraine; Neutropenia; Pallor; Reticulocytopenia; Short statureAplastic Anemia ; Bone Marrow Failure Syndromes
RPS1919q13.2100%gene with protein product60347411 pairs of ribs; Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Absent thumb; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Bifid thoracic vertebrae; Cleft palate; Cleft upper lip; Coarctation of aorta; Colon cancer; Congenital hypoplastic anemia; Congestive heart failure; Delayed cranial suture closure; Delayed puberty; Depressed nasal ridge; Downslanted palpebral fissures; Elevated red cell adenosine deaminase activity; Failure to thrive; Fatigue; High palate; Hypertelorism; Hypoplasia of the radius; Hypoplastic coccygeal vertebrae; Hypoplastic ilia; Hypoplastic sacral vertebrae; Infantile onset; Intrauterine growth retardation; Macrocytic anemia; Microcephaly; Micrognathia; Migraine; Myelodysplasia; Narrow chest; Neutropenia; Osteosarcoma; Pallor; Parietal foramina; Partial duplication of thumb phalanx; Premature birth; Reticulocytopenia; Retrognathia; Short neck; Short stature; Short thumb; Strabismus; Thrombocytopenia; Thrombocytosis; Triphalangeal thumb; Ventricular septal defect; Webbed neckAplastic Anemia ; Bone Marrow Failure Syndromes
RPS2410q22.3100%gene with protein product602412Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Fatigue; Increased mean corpuscular volume; Macrocytic anemia; Migraine; Pallor; Persistence of hemoglobin F; Reticulocytopenia; Webbed neckAplastic Anemia ; Bone Marrow Failure Syndromes
RPS2612q13.2100%gene with protein product603701Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Fatigue; Infantile onset; Macrocytic anemia; Migraine; Pallor; ReticulocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes
RPS271q21.3100%gene with protein product603702Abnormality of skin pigmentation; Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Anemia; Arrhythmia; Autosomal dominant inheritance; Cleft palate; Delayed puberty; Fatigue; Macrocytic anemia; Migraine; PallorBone Marrow Failure Syndromes
RPS2819p13.2100%gene with protein product603685Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Autosomal dominant inheritance; Broad neck; Cleft palate; Congenital diaphragmatic hernia; Delayed puberty; Downslanted palpebral fissures; Epicanthus; Fatigue; Feeding difficulties; Global developmental delay; Infantile onset; Macrocytic anemia; Micrognathia; Microtia; Midface retrusion; Migraine; Mixed hearing impairment; Pallor; Posteriorly rotated ears; Respiratory distress; Short stature; Sparse and thin eyebrowBone Marrow Failure Syndromes
RPS2914q21.3100%gene with protein product603633Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Autosomal dominant inheritance; Childhood onset; Cleft palate; Delayed puberty; Elevated red cell adenosine deaminase activity; Fatigue; Incomplete penetrance; Macrocytic anemia; Migraine; Normocytic anemia; Pallor; Variable expressivityAplastic Anemia ; Bone Marrow Failure Syndromes
RPS72p25.399.95%gene with protein product603658Abnormality of the genital system; Abnormality of the hand; Abnormality of the urinary system; Arrhythmia; Cleft palate; Delayed puberty; Fatigue; Hypertelorism; Macrocytic anemia; Migraine; Neutropenia; Pallor; Short nose; Short stature; Thick upper lip vermilion; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes
RUNX121q22.12100%gene with protein product151385AML1, CBFA2Abnormality of basophils; Acute monocytic leukemia; Acute myeloid leukemia; Autosomal dominant inheritance; Bruising susceptibility; Epistaxis; Fatigue; Fever; Impaired platelet aggregation; Leukocytosis; Lymphoma; Myelodysplasia; Myeloproliferative disorder; Neuroblastoma; Poor appetite; Prolonged bleeding time; Splenomegaly; Thrombocytopenia; ThrombocytosisAplastic Anemia ; Bone Marrow Failure Syndromes
SCNN1B16p12.2-p12.100%gene with protein product600760Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bronchiectasis; Cerebral ischemia; Chronic bronchitis; Constipation; Decreased circulating aldosterone level; Decreased circulating renin level; Dehydration; Diarrhea; Failure to thrive; Fatigue; Feeding difficulties in infancy; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hypertension; Hypokalemia; Hypokalemic alkalosis; Hyponatremia; Hypotension; Infantile onset; Metabolic acidosis; Muscle weakness; Nephropathy; Pseudohypoaldosteronism; Recurrent respiratory infections; Renal insufficiency; Renal salt wasting; Vomiting
SCNN1G16p12.2100%gene with protein product600761Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bronchiectasis; Cerebral ischemia; Chronic bronchitis; Constipation; Decreased circulating aldosterone level; Decreased circulating renin level; Dehydration; Diarrhea; Failure to thrive; Fatigue; Feeding difficulties in infancy; Hyperactive renin-angiotensin system; Hyperaldosteronism; Hyperkalemia; Hypertension; Hypokalemia; Hypokalemic alkalosis; Hyponatremia; Hypotension; Infantile onset; Metabolic acidosis; Muscle weakness; Nephropathy; Pseudohypoaldosteronism; Recurrent respiratory infections; Renal insufficiency; Renal salt wasting; Vomiting
SDHA5p15.33100%gene with protein product600857SDH2Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Adrenal pheochromocytoma; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebral hemorrhage; Chest pain; CNS demyelination; Cognitive impairment; Constipation; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dysarthria; Dysphagia; Dysphonia; Dystonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Emotional lability; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Exercise intolerance; Extraadrenal pheochromocytoma; Failure to thrive; Fatigue; Flexion contracture; Flushing; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hypotonia; Gliosis; Global developmental delay; Glomerulosclerosis; Hepatocellular necrosis; Heterogeneous; Hypercalcemia; Hyperreflexia; Hypertensive retinopathy; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Intestinal obstruction; Lactic acidosis; Left ventricular noncompaction; Leukoencephalopathy; Mitochondrial inheritance; Muscle weakness; Myoclonus; Nausea; Nausea and vomiting; Neonatal hypotonia; Neoplasm of the stomach; Nystagmus; Ophthalmoplegia; Optic atrophy; Palpitations; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Phenotypic variability; Pigmentary retinopathy; Positive regitine blocking test; Progressive; Progressive leukoencephalopathy; Proteinuria; Ptosis; Pulsatile tinnitus; Ragged-red muscle fibers; Recurrent paroxysmal headache; Respiratory failure; Sarcoma; Seizures; Sensorineural hearing impairment; Short stature; Sinus tachycardia; Spasticity; Strabismus; Stress/infection-induced lactic acidosis; Visual impairment; Weight loss
SDHA5p15.33100%gene with protein product600857SDH2Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Adrenal pheochromocytoma; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebral hemorrhage; Chest pain; CNS demyelination; Cognitive impairment; Constipation; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dysarthria; Dysphagia; Dysphonia; Dystonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Emotional lability; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Exercise intolerance; Extraadrenal pheochromocytoma; Failure to thrive; Fatigue; Flexion contracture; Flushing; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hypotonia; Gliosis; Global developmental delay; Glomerulosclerosis; Hepatocellular necrosis; Heterogeneous; Hypercalcemia; Hyperreflexia; Hypertensive retinopathy; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Intestinal obstruction; Lactic acidosis; Left ventricular noncompaction; Leukoencephalopathy; Mitochondrial inheritance; Muscle weakness; Myoclonus; Nausea; Nausea and vomiting; Neonatal hypotonia; Neoplasm of the stomach; Nystagmus; Ophthalmoplegia; Optic atrophy; Palpitations; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Phenotypic variability; Pigmentary retinopathy; Positive regitine blocking test; Progressive; Progressive leukoencephalopathy; Proteinuria; Ptosis; Pulsatile tinnitus; Ragged-red muscle fibers; Recurrent paroxysmal headache; Respiratory failure; Sarcoma; Seizures; Sensorineural hearing impairment; Short stature; Sinus tachycardia; Spasticity; Strabismus; Stress/infection-induced lactic acidosis; Visual impairment; Weight loss
SDHAF211q12.2100%gene with protein product613019PGL2, C11orf79Adrenal pheochromocytoma; Adult onset; Autosomal dominant inheritance; Cerebral hemorrhage; Chemodectoma; Chest pain; Cranial nerve paralysis; Dysphonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Glomerulosclerosis; Glomus jugular tumor; Glomus tympanicum paraganglioma; Hoarse voice; Hypercalcemia; Hypertensive retinopathy; Loss of voice; Nausea; Palpitations; Paraganglioma of head and neck; Paroxysmal vertigo; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Sinus tachycardia; Vagal paraganglioma; Vocal cord paralysis; Weight loss
SDHB1p36.13100%gene with protein product185470SDH1, SDHAbdominal pain; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Cafe-au-lait spot; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Congenital cataract; Congestive heart failure; Conjunctival hamartoma; Constipation; Cranial nerve paralysis; Dysphagia; Dysphonia; Elevated urinary catecholamines; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Endometrial carcinoma; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Goiter; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hypercalcemia; Hyperhidrosis; Hyperpigmentation of the skin; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Incomplete penetrance; Intellectual disability; Intestinal obstruction; Large hands; Lipoma; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Nausea; Nausea and vomiting; Neoplasm; Neoplasm of the gastrointestinal tract; Neoplasm of the stomach; Neurofibromas; Palmoplantar keratoderma; Palpitations; Papillary thyroid carcinoma; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Pheochromocytoma; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Renal artery stenosis; Renal cell carcinoma; Sarcoma; Sinus tachycardia; Sporadic; Subcutaneous nodule; Tachycardia; Tinnitus; Urticaria; Uterine leiomyoma; Weight loss
SDHB1p36.13100%gene with protein product185470SDH1, SDHAbdominal pain; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Cafe-au-lait spot; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Congenital cataract; Congestive heart failure; Conjunctival hamartoma; Constipation; Cranial nerve paralysis; Dysphagia; Dysphonia; Elevated urinary catecholamines; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Endometrial carcinoma; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Goiter; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hypercalcemia; Hyperhidrosis; Hyperpigmentation of the skin; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Incomplete penetrance; Intellectual disability; Intestinal obstruction; Large hands; Lipoma; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Nausea; Nausea and vomiting; Neoplasm; Neoplasm of the gastrointestinal tract; Neoplasm of the stomach; Neurofibromas; Palmoplantar keratoderma; Palpitations; Papillary thyroid carcinoma; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Pheochromocytoma; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Renal artery stenosis; Renal cell carcinoma; Sarcoma; Sinus tachycardia; Sporadic; Subcutaneous nodule; Tachycardia; Tinnitus; Urticaria; Uterine leiomyoma; Weight loss
SDHC1q23.3100%gene with protein product602413PGL3Abdominal pain; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Conjunctival hamartoma; Constipation; Cranial nerve paralysis; Dysphagia; Dysphonia; Elevated circulating catecholamine level; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Goiter; Hamartomatous polyposis; Hearing impairment; Hoarse voice; Hypercalcemia; Hyperhidrosis; Hyperpigmentation of the skin; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Intellectual disability; Intestinal obstruction; Large hands; Lipoma; Loss of voice; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Nausea; Nausea and vomiting; Neoplasm of the gastrointestinal tract; Neoplasm of the stomach; Neurofibromas; Palmoplantar keratoderma; Palpitations; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Sarcoma; Sinus tachycardia; Sporadic; Subcutaneous nodule; Tachycardia; Tinnitus; Urticaria; Vocal cord paralysis; Weight loss
SDHC1q23.3100%gene with protein product602413PGL3Abdominal pain; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Conjunctival hamartoma; Constipation; Cranial nerve paralysis; Dysphagia; Dysphonia; Elevated circulating catecholamine level; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Goiter; Hamartomatous polyposis; Hearing impairment; Hoarse voice; Hypercalcemia; Hyperhidrosis; Hyperpigmentation of the skin; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Intellectual disability; Intestinal obstruction; Large hands; Lipoma; Loss of voice; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Nausea; Nausea and vomiting; Neoplasm of the gastrointestinal tract; Neoplasm of the stomach; Neurofibromas; Palmoplantar keratoderma; Palpitations; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Sarcoma; Sinus tachycardia; Sporadic; Subcutaneous nodule; Tachycardia; Tinnitus; Urticaria; Vocal cord paralysis; Weight loss
SDHD11q23.199.87%gene with protein product602690PGL, PGL1Abdominal pain; Abnormal mitochondria in muscle tissue; Abnormality of mitochondrial metabolism; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Breast carcinoma; Cafe-au-lait spot; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Conductive hearing impairment; Congenital cataract; Congestive heart failure; Conjunctival hamartoma; Cranial nerve paralysis; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dysphagia; Dysphonia; Dystonia; Elevated circulating catecholamine level; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Erythematous plaque; Exercise intolerance; Extraadrenal pheochromocytoma; Fatigue; Flexion contracture; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Glomus tympanicum paraganglioma; Goiter; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hoarse voice; Hypercalcemia; Hyperhidrosis; Hyperreflexia; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Hypertrophic cardiomyopathy; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Intestinal carcinoid; Intestinal obstruction; Left ventricular noncompaction; Leukoencephalopathy; Lipoma; Loss of voice; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Muscle weakness; Myoclonus; Nausea; Neonatal hypotonia; Neoplasm; Neoplasm of the gastrointestinal tract; Neoplasm of the thyroid gland; Night sweats; Nystagmus; Ophthalmoplegia; Optic atrophy; Palmoplantar keratoderma; Palpitations; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Phenotypic variability; Pheochromocytoma; Pigmentary retinopathy; Positive regitine blocking test; Progressive leukoencephalopathy; Proteinuria; Protracted diarrhea; Ptosis; Pulsatile tinnitus; Ragged-red muscle fibers; Recurrent paroxysmal headache; Renal artery stenosis; Renal cell carcinoma; Seizures; Short stature; Sinus tachycardia; Small intestine carcinoid; Spasticity; Stress/infection-induced lactic acidosis; Subcutaneous nodule; Tachycardia; Tinnitus; Uterine leiomyoma; Vagal paraganglioma; Visual impairment; Vocal cord paralysis; Weight loss
SH2B312q24.12100%gene with protein product605093Abnormal platelet morphology; Abnormality of the skeletal system; Acrocyanosis; Amaurosis fugax; Arterial thrombosis; Autosomal dominant inheritance; Cerebral hemorrhage; Chest pain; Exertional dyspnea; Fatigue; Headache; Hypertension; Impaired platelet aggregation; Increased hematocrit; Increased hemoglobin; Increased megakaryocyte count; Increased red blood cell mass; Myelofibrosis; Myeloproliferative disorder; Myocardial infarction; Paresthesia; Peripheral thrombosis; Plethora; Prolonged bleeding time; Somatic mutation; Splenomegaly; Thrombocytosis; Transient ischemic attack; Venous thrombosis; VertigoBone Marrow Failure Syndromes
SLC11A12q35100%gene with protein product600266LSH, NRAMP, NRAMP1Abnormal lung morphology; Cough; Fatigue; Fever; Weight loss
SLC18A210q25.3100%gene with protein product193001VMAT2Abnormality of eye movement; Abnormality of the foot; Abnormality of the vasculature; Cognitive impairment; Dysarthria; Dysdiadochokinesis; Fatigue; Generalized hypotonia; Global developmental delay; Hyperhidrosis; Hypomimic face; Inappropriate crying; Limb dystonia; Muscular hypotonia of the trunk; Nasal speech; Oculogyric crisis; Orofacial dyskinesia; Parkinsonism; Poor head control; Postnatal microcephaly; Ptosis; Shuffling gait; Sleep disturbance; Spastic tetraparesis; Stridor; Tremor
SLC18A310q11.23100%gene with protein product600336Apnea; Autosomal recessive inheritance; Difficulty walking; Exercise intolerance; Facial palsy; Fatigue; Feeding difficulties; Generalized hypotonia; Knee flexion contracture; Nystagmus; Ophthalmoplegia; Ptosis; Respiratory insufficiency
SLC25A263p14.199.97%gene with protein product611037Abdominal pain; Autosomal recessive inheritance; Congestive heart failure; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex IV; Decreased fetal movement; Fatigue; Global developmental delay; Increased serum lactate; Infantile onset; Muscle weakness; Polyhydramnios; Poor appetite; Ragged-red muscle fibers; Respiratory failure; Severe lactic acidosis; Variable expressivity
SLC26A47q22.399.32%gene with protein product605646DFNB4Abdominal distention; Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Coarse facial features; Cochlear malformation; Compensated hypothyroidism; Congenital sensorineural hearing impairment; Constipation; Enlarged vestibular aqueduct; Fatigue; Feeding difficulties; Global developmental delay; Goiter; Hypersomnia; Hypoplasia of the cochlea; Hypothyroidism; Intellectual disability; Intellectual disability, severe; Jaundice; Large fontanelles; Macroglossia; Muscle weakness; Muscular hypotonia; Sensorineural hearing impairment; Short stature; Thyroid agenesis; Thyroid carcinoma; Thyroid hypoplasia; Vestibular dysfunction
SLC26A47q22.399.32%gene with protein product605646DFNB4Abdominal distention; Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Coarse facial features; Cochlear malformation; Compensated hypothyroidism; Congenital sensorineural hearing impairment; Constipation; Enlarged vestibular aqueduct; Fatigue; Feeding difficulties; Global developmental delay; Goiter; Hypersomnia; Hypoplasia of the cochlea; Hypothyroidism; Intellectual disability; Intellectual disability, severe; Jaundice; Large fontanelles; Macroglossia; Muscle weakness; Muscular hypotonia; Sensorineural hearing impairment; Short stature; Thyroid agenesis; Thyroid carcinoma; Thyroid hypoplasia; Vestibular dysfunction
SLC2A1020q13.12100%gene with protein product606145Abnormal carotid artery morphology; Abnormal thrombosis; Aortic dissection; Aortic regurgitation; Aortic root aneurysm; Aortic tortuosity; Aortic valve stenosis; Arachnodactyly; Arterial stenosis; Autosomal recessive inheritance; Blepharophimosis; Bruising susceptibility; Congenital diaphragmatic hernia; Congenital onset; Congestive heart failure; Convex nasal ridge; Craniosynostosis; Cutis laxa; Downslanted palpebral fissures; Fatigue; Femoral hernia; Flexion contracture; Generalized arterial tortuosity; Generalized hypotonia; Hiatus hernia; High palate; Hyperextensible skin; Hypertelorism; Hypertension; Inguinal hernia; Ischemic stroke;