XomeDxSlice Tool

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

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Hypothyroidism

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACP519p13.2100%gene with protein product171640Abnormal form of the vertebral bodies; Abnormality of epiphysis morphology; Abnormality of the metaphysis; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cellular immunodeficiency; Combined immunodeficiency; Decrease in T cell count; Delayed eruption of teeth; Hyperlordosis; Hypermelanotic macule; Hypopigmented skin patches on arms; Hypothyroidism; Immune dysregulation; Irregular vertebral endplates; Juvenile onset; Kyphoscoliosis; Kyphosis; Large iliac wings; Low-set ears; Lumbar hyperlordosis; Lymphadenopathy; Metaphyseal irregularity; Metaphyseal sclerosis; Micromelia; Narrow nose; Platyspondyly; Pneumonia; Progressive spastic quadriplegia; Purpura; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Restrictive ventilatory defect; Rheumatoid arthritis; Rhizomelia; Short stature; Spastic diplegia; Spondylometaphyseal dysplasia; Tubulointerstitial fibrosis; VitiligoAutoimmune Disorders
AKT114q32.3399.98%gene with protein product164730Abnormal form of the vertebral bodies; Abnormal lung lobation; Abnormal subcutaneous fat tissue distribution; Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system; Abnormality of the penis; Adenoma sebaceum; Adult onset; Angioid streaks of the fundus; Arteriovenous malformation; Asymmetry of the thorax; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Bronchogenic cyst; Cachexia; Calvarial hyperostosis; Capillary hemangiomas; Cataract; Cavernous hemangioma; Cognitive impairment; Colonic diverticula; Colorectal polyposis; Conjunctival hamartoma; Decreased muscle mass; Deep venous thrombosis; Depigmentation/hyperpigmentation of skin; Depressed nasal bridge; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Epibulbar dermoid; Epidermal acanthosis; Epidermal nevus; Facial hyperostosis; Fibroadenoma of the breast; Finger syndactyly; Furrowed tongue; Generalized hyperkeratosis; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hemihypertrophy; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; High palate; Hydrocele testis; Hyperkeratosis; Hypertelorism; Hyperthyroidism; Hypertrophy of skin of soles; Hypoplasia of the maxilla; Hypothyroidism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intention tremor; Irregular hyperpigmentation; Kyphoscoliosis; Kyphosis; Lipoma; Long face; Lower limb asymmetry; Lymphangioma; Lymphedema; Macrocephaly; Macrodactyly; Macroglossia; Macrotia; Macule; Mandibular hyperostosis; Melanocytic nevus; Meningioma; Micrognathia; Mucosal telangiectasiae; Multiple cafe-au-lait spots; Multiple lipomas; Myopia; Narrow mouth; Neoplasm of the stomach; Open mouth; Ovarian cyst; Ovarian papillary adenocarcinoma; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Progressive; Progressive macrocephaly; Ptosis; Pulmonary embolism; Renal cell carcinoma; Round face; Scoliosis; Seizures; Skeletal dysplasia; Skin tags; Somatic mutation; Spinal canal stenosis; Spinal cord compression; Splenomegaly; Sporadic; Subcutaneous lipoma; Subcutaneous nodule; Thin bony cortex; Thrombophlebitis; Thyroid adenoma; Thyroiditis; Transitional cell carcinoma of the bladder; Upper limb asymmetry; Uterine leiomyosarcoma; Varicocele; Vascular skin abnormality; Venous malformation; Visceral angiomatosis
ALMS12p13.199.77%gene with protein product606844Abnormal chorioretinal morphology; Abnormality of the dentition; Abnormality of the hand; Acanthosis nigricans; Accelerated skeletal maturation; Alopecia; Asthma; Atherosclerosis; Autosomal recessive inheritance; Blindness; Cataract; Chronic active hepatitis; Chronic otitis media; Cone/cone-rod dystrophy; Congestive heart failure; Constriction of peripheral visual field; Death in early adulthood; Decreased circulating high-density lipoprotein levels; Diabetes insipidus; Dilated cardiomyopathy; Elevated hepatic transaminases; Gingivitis; Global developmental delay; Growth hormone deficiency; Gynecomastia; Hepatic steatosis; Hepatomegaly; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperostosis frontalis interna; Hypertension; Hypertriglyceridemia; Hyperuricemia; Hypothyroidism; Insulin resistance; Insulin-resistant diabetes mellitus; Kyphosis; Menstrual irregularities; Multinodular goiter; Nephritis; Nystagmus; Otitis media; Pes planus; Photophobia; Pigmentary retinopathy; Progressive sensorineural hearing impairment; Progressive visual loss; Pulmonary arterial hypertension; Recurrent pneumonia; Recurrent respiratory infections; Renal insufficiency; Respiratory insufficiency; Scoliosis; Short stature; Subcapsular cataract; Truncal obesity; Tubulointerstitial nephritis; Type II diabetes mellitusBardet-Biedl Syndrome ; Obesity
CDON11q24.299.99%gene with protein product608707Agenesis of corpus callosum; Autosomal dominant inheritance; Cleft lip; Cleft palate; Delayed puberty; Ectopic posterior pituitary; Failure to thrive; Global developmental delay; Holoprosencephaly; Hypoglycemia; Hypoplasia of penis; Hypotelorism; Hypothyroidism; Microcephaly; Polysplenia; Proptosis; Short stature; Sporadic; Synophrys; Thick eyebrow; Variable expressivity
CHD78q12.2100%gene with protein product608892CRGAbnormal aortic valve morphology; Abnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormality of body height; Abnormality of female internal genitalia; Abnormality of the soft palate; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Alopecia; Anophthalmia; Anosmia; Anterior hypopituitarism; Anxiety; Aortic arch aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thymus; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bifid scrotum; Breast hypoplasia; Choanal atresia; Chorioretinal coloboma; Chronic diarrhea; Cleft lip; Cleft palate; Cleft upper lip; Coloboma; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed eruption of teeth; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dimple chin; Double outlet right ventricle; Downslanted palpebral fissures; Dry skin; Duodenal atresia; Dysphagia; Edema; Eosinophilia; Erectile abnormalities; Erythroderma; Esophageal atresia; Eunuchoid habitus; External ear malformation; Facial asymmetry; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Female hypogonadism; Fever; Gastroesophageal reflux; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hearing impairment; Hepatomegaly; Horseshoe kidney; Hydronephrosis; Hypocalcemia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the semicircular canal; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Impotence; Increased female libido; Intellectual disability; Interrupted aortic arch; Iris coloboma; Labial hypoplasia; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphopenia; Malar flattening; Male hypogonadism; Micropenis; Microphthalmia; Muscular hypotonia; Narrow face; Narrow mouth; Non-obstructive azoospermia; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Osteopenia; Osteoporosis; Overfolded helix; Parathyroid hypoplasia; Patent ductus arteriosus; Phenotypic variability; Pneumonia; Polyhydramnios; Posterior choanal atresia; Postnatal growth retardation; Primary amenorrhea; Pruritus; Ptosis; Pulmonic stenosis; Reduced bone mineral density; Secondary amenorrhea; Sensorineural hearing impairment; Severe combined immunodeficiency; Short stature; Sparse body hair; Splenomegaly; Sporadic; Square face; Strabismus; Tetralogy of Fallot; Thickened skin; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Wide intermamillary distanceDisorders of Sex Development; VACTERL Association
DCAF172q31.1100%gene with protein product612515C2orf37Abnormal spermatogenesis; Abnormal T-wave; Abnormality of extrapyramidal motor function; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Choreoathetosis; Decreased serum estradiol; Decreased serum insulin-like growth factor 1; Decreased serum testosterone level; Decreased testicular size; Diabetes mellitus; Dysarthria; Dystonia; Fine hair; Hypergonadotropic hypogonadism; Hyperlipidemia; Hypogonadotrophic hypogonadism; Hypoplasia of the fallopian tube; Hypoplasia of the uterus; Hypothyroidism; Increased thyroid-stimulating hormone level; Insulin-resistant diabetes mellitus; Intellectual disability; Mental deterioration; Micropenis; Phenotypic variability; Premature ovarian insufficiency; Protruding ear; Sensorineural hearing impairment; Sparse hair; Streak ovary
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
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
FMR1Xq27.399.84%gene with protein productXomeDxSlice is not appropriate.309550POF1, POFAbnormal head movements; Abnormality of metabolism/homeostasis; Adult onset; Anxiety; Attention deficit hyperactivity disorder; Autism; Bowel incontinence; Bradykinesia; Bulbous nose; Cerebellar atrophy; Cerebral cortical atrophy; Chronic otitis media; Coarse facial features; Congenital macroorchidism; Cryptorchidism; Decreased testicular size; Deeply set eye; Delayed skeletal maturation; Dementia; Depressivity; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Disinhibition; Dysarthria; Dysautonomia; Dysdiadochokinesis; Dysesthesia; Dysmetria; Failure to thrive; Folate-dependent fragile site at Xq28; Frontal bossing; Gait ataxia; Gastroesophageal reflux; Global developmental delay; Gynecomastia; Hearing impairment; High pitched voice; Hyperactivity; Hypogonadism; Hyporeflexia; Hypothyroidism; Impaired distal vibration sensation; Impotence; Incomplete penetrance; Increased circulating gonadotropin level; Inertia; Intellectual disability, mild; Intellectual disability, moderate; Intention tremor; Intrauterine growth retardation; Joint laxity; Large forehead; Long face; Macrocephaly; Macroorchidism; Macroorchidism, postpubertal; Macrotia; Mandibular prognathia; Mask-like facies; Memory impairment; Menstrual irregularities; Mitral valve prolapse; Muscle weakness; Muscular hypotonia; Myalgia; Narrow face; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Obsessive-compulsive trait; Parkinsonism; Pectus excavatum; Periventricular gray matter heterotopia; Pes planus; Pollakisuria; Poor eye contact; Poor fine motor coordination; Postural tremor; Premature ovarian insufficiency; Protruding ear; Resting tremor; Rigidity; Saccadic smooth pursuit; Scoliosis; Seizures; Short foot; Short stature; Sinusitis; Small hand; Sparse body hair; Thin vermilion border; Truncal obesity; Urinary bladder sphincter dysfunction; Urinary incontinence; X-linked dominant inheritance; X-linked inheritance
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
FOXI15q35.1100%gene with protein product601093FKHL10Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Cochlear malformation; Compensated hypothyroidism; Congenital sensorineural hearing impairment; Enlarged vestibular aqueduct; Goiter; Hypoplasia of the cochlea; Hypothyroidism; Intellectual disability; Sensorineural hearing impairment; Thyroid carcinoma; Vestibular dysfunction
FOXP3Xp11.23100%gene with protein product300292IPEXAutoimmune hemolytic anemia; Diarrhea; Eczema; Eosinophilia; Hypothyroidism; Ileus; Immune dysregulation; Lymphadenopathy; Thrombocytopenia; Type I diabetes mellitus; Variable expressivity; Villous atrophy; X-linked recessive inheritanceAutoimmune Disorders ; Inflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
FUCA11p36.11100%gene with protein product612280Abnormality of the abdominal wall; Abnormality of the gallbladder; Absent/hypoplastic coccyx; Absent/hypoplastic paranasal sinuses; Angiokeratoma; Anhidrosis; Anterior beaking of lumbar vertebrae; Anterior beaking of thoracic vertebrae; Autosomal recessive inheritance; Barrel-shaped chest; Brachycephaly; Cardiomegaly; Cerebral atrophy; Cervical platyspondyly; Coarse facial features; Corneal opacity; Coxa valga; Decreased muscle mass; Dry skin; Dysostosis multiplex; Elevated sweat chloride; Failure to thrive; Flexion contracture; Frontal bossing; Generalized hyperkeratosis; Global developmental delay; Hearing impairment; Hepatomegaly; Hernia; Hyperhidrosis; Hypertelorism; Hypothyroidism; Intellectual disability; Intellectual disability, severe; Kyphosis; Lipoatrophy; Lumbar hyperlordosis; Macroglossia; Mucopolysacchariduria; Muscular hypotonia; Oligosacchariduria; Polyneuropathy; Prominent forehead; Recurrent respiratory infections; Scoliosis; Seizures; Shield chest; Short stature; Spastic tetraplegia; Splenomegaly; Thick eyebrow; Thick lower lip vermilion; Tortuosity of conjunctival vessels; Vacuolated lymphocytes; Vascular skin abnormality; Wide nose
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
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
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
GNE9p13.3100%gene with protein product603824IBM22-3 toe syndactyly; Abnormality of metabolism/homeostasis; Abnormality of the mitochondrion; Absent Achilles reflex; Adult onset; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Cholelithiasis; Coarse facial features; Deposits immunoreactive to beta-amyloid protein; Distal amyotrophy; Distal muscle weakness; Dysostosis multiplex; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: myotonic discharges; EMG: positive sharp waves; Epicanthus; Episodic abdominal pain; Expressive language delay; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Frontal bossing; Gait disturbance; Generalized hirsutism; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hepatosplenomegaly; High palate; High, narrow palate; Hip flexor weakness; Hoarse voice; Hyperkinesis; Hypertelorism; Hypoplastic nipples; Hypothyroidism; Increased variability in muscle fiber diameter; Inguinal hernia; Intellectual disability, mild; Joint hypermobility; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limited shoulder movement; Limited wrist extension; Long hallux; Long philtrum; Low posterior hairline; Low-set ears; Memory impairment; Mildly elevated creatine phosphokinase; Muscle fiber inclusion bodies; Periorbital fullness; Prolonged partial thromboplastin time; Prolonged prothrombin time; Prominent forehead; Protuberant abdomen; Proximal muscle weakness; Rimmed vacuoles; Scoliosis; Seizures; Shoulder girdle muscle weakness; Sleep apnea; Smooth philtrum; Spinal deformities; Splenomegaly; Steppage gait; Synophrys; Thin upper lip vermilion; Thoracic hypoplasia; Tibialis muscle weakness; Upper airway obstruction; Wide nasal bridgeBone Marrow Failure Syndromes ; Rhabdomyolysis
GPR1611q24.2100%gene with protein product612250Delayed puberty; Ectopic posterior pituitary; Failure to thrive; Hypoglycemia; Hypoplasia of penis; Hypothyroidism; Short stature
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
HSD17B39q22.32100%gene with protein product605573Abnormality of metabolism/homeostasis; Abnormality of the urethra; Ambiguous genitalia; Autosomal recessive inheritance; Cryptorchidism; Gynecomastia; Hypogonadotrophic hypogonadism; Hypothyroidism; Infertility; Male pseudohermaphroditismDisorders of Sex Development
IGSF1Xq25100%gene with protein product300137Hypothyroidism; Overweight; X-linked recessive inheritance
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
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
KAT6B10q22.299.98%gene with protein product605880MYST4Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the antihelix; Abnormality of the cheek; Abnormality of the spleen; Agenesis of corpus callosum; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Arthrogryposis multiplex congenita; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bilateral single transverse palmar creases; Blepharophimosis; Brachydactyly; Bulbous nose; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Coarse facial features; Coarse hair; Colpocephaly; Congenital hip dislocation; Cryptorchidism; Cystic hygroma; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Downslanted palpebral fissures; Dysarthria; Dysphagia; Ectopic thyroid; Enlarged labia minora; Enlarged thorax; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatomegaly; High forehead; High palate; Hip contracture; Hydronephrosis; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplastic ilia; Hypoplastic inferior pubic rami; Hypoplastic ischia; Hypothyroidism; Intellectual disability; Intellectual disability, progressive; Joint hyperflexibility; Knee flexion contracture; Laryngomalacia; Long nose; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micropenis; Midface retrusion; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Patellar aplasia; Patellar dislocation; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Periventricular gray matter heterotopia; Polyhydramnios; Posteriorly rotated ears; Prominent nasal bridge; Prominent nose; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonary hypoplasia; Recurrent respiratory infections; Retrognathia; Scoliosis; Scrotal hypoplasia; Seizures; Severe short stature; Short palm; Short palpebral fissure; Short phalanx of finger; Short stature; Sloping forehead; Sparse scalp hair; Specific learning disability; Strabismus; Submucous cleft hard palate; Talipes equinovarus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Thyroid agenesis; Thyroid hypoplasia; Triangular face; Ventricular septal defect; Webbed neck; Wide intermamillary distance; Wide noseDisorders of Sex Development; Ectodermal Dysplasia
KCNJ101q23.2100%gene with protein product602208Abnormality of metabolism/homeostasis; Abnormality of the mitochondrion; Abnormality of the renal tubule; Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cochlear malformation; Compensated hypothyroidism; Congenital sensorineural hearing impairment; Delayed speech and language development; Dysdiadochokinesis; Enlarged vestibular aqueduct; Enuresis; Failure to thrive; Generalized hypotonia; Global developmental delay; Goiter; Hyperaldosteronism; Hypocalciuria; Hypokalemia; Hypokalemic metabolic alkalosis; Hypomagnesemia; Hypoplasia of the cochlea; Hypothyroidism; Increased circulating renin level; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intention tremor; Muscular hypotonia; Polydipsia; Polyuria; Renal potassium wasting; Renal salt wasting; Renal sodium wasting; Salt craving; Seizures; Sensorineural hearing impairment; Thyroid carcinoma; Vestibular dysfunction
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
LRBA4q31.399.84%gene with protein product606453CDC4LArthritis; Asthma; Autoimmune hemolytic anemia; Autosomal recessive inheritance; Bronchiectasis; Chronic diarrhea; Chronic lung disease; Clubbing of fingers; Colitis; Conjunctivitis; Failure to thrive; Gastritis; Growth delay; Hypothyroidism; IgA deficiency; IgM deficiency; Immunodeficiency; Lymphadenopathy; Pneumonia; Progressive; Recurrent otitis media; Recurrent sinusitis; ThrombocytopeniaAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
MARS12q13.3100%gene with protein product156560Alveolar proteinosis; Aminoaciduria; Anemia; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Clubbing; Cough; Decreased liver function; Distal sensory impairment; Dyspnea; Elevated hepatic transaminases; Failure to thrive; Foot dorsiflexor weakness; Hepatic steatosis; Hepatomegaly; Hypothyroidism; Interstitial pulmonary abnormality; Peripheral axonal neuropathy; Progressive; Respiratory insufficiency; Slow progression; Steppage gait; Variable expressivity
MCM820p12.3100%gene with protein product608187C20orf154Autosomal recessive inheritance; Azoospermia; Decreased testicular size; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Hypoplasia of the ovary; Hypothyroidism; Premature ovarian insufficiency; Primary amenorrhea
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
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
NPHS119q13.12100%gene with protein product602716Abdominal distention; Abnormality of the renal tubule; Autosomal recessive inheritance; Congenital nephrotic syndrome; Congenital onset; Delayed eruption of permanent teeth; Diffuse mesangial sclerosis; Edema; Elevated amniotic fluid alpha-fetoprotein; Gastroesophageal reflux; Growth delay; Hyperlipidemia; Hypoalbuminemia; Hypoproteinemia; Hypothyroidism; Neonatal respiratory distress; Nephrotic syndrome; Proteinuria; Pyloric stenosis; Rapidly progressive; Recurrent infections; Renal insufficiency; Small for gestational age; Tubular atrophyNephrotic Syndrome
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
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
PIEZO116q24.3100%gene with protein product611184FAM38AAscites; Autosomal dominant inheritance; Autosomal recessive inheritance; Cupped ear; Exercise-induced hemolysis; Facial edema; Gastroesophageal reflux; Generalized edema; Genital edema; Global developmental delay; Hearing impairment; Hydrocele testis; Hypothyroidism; Increased red cell hemolysis by shear stress; Lymphedema; Nonimmune hydrops fetalis; Pectus excavatum; Periorbital edema; Phenotypic variability; Polyhydramnios; Reticulocytosis; Scoliosis; Splenomegaly; Varicose veins; Webbed neckHemolytic Anemia
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
PMM216p13.2100%gene with protein product601785CDG1Abnormal subcutaneous fat tissue distribution; Abnormality of the amniotic fluid; Ataxia; Autosomal recessive inheritance; Cardiomyopathy; Depressed nasal bridge; Diarrhea; Elevated hepatic transaminases; Esotropia; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Generalized hypotonia; Global developmental delay; Hepatic fibrosis; Hepatic steatosis; Hepatomegaly; Hypergonadotropic hypogonadism; Hypoalbuminemia; Hypocholesterolemia; Hyporeflexia; Hypothyroidism; IgA deficiency; IgG deficiency; Inverted nipples; Kyphosis; Macrotia; Microcephaly; Muscle weakness; Nephrotic syndrome; Nonimmune hydrops fetalis; Nystagmus; Olivopontocerebellar hypoplasia; Osteopenia; Pericardial effusion; Polyneuropathy; Premature ovarian insufficiency; Prolonged partial thromboplastin time; Prolonged prothrombin time; Prominent forehead; Proteinuria; Proximal tubulopathy; Reduced antithrombin III activity; Reduced factor XI activity; Renal cyst; Rod-cone dystrophy; Seizures; Stroke-like episode; Thin upper lip vermilion; Thrombocytosis; Type I transferrin isoform profile; Vomiting
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
PROKR220p12.3100%gene with protein product607123GPR73L1, KAL3Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Agenesis of corpus callosum; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cleft palate; Cleft upper lip; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Ectopic posterior pituitary; Erectile abnormalities; Eunuchoid habitus; Failure to thrive; Female hypogonadism; Gynecomastia; Hemiplegia/hemiparesis; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Impotence; Incomplete penetrance; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Nystagmus; Osteopenia; Osteoporosis; Pectus excavatum; Pes planus; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Seizures; Septo-optic dysplasia; Short stature; Sparse body hair; Strabismus; Unilateral renal agenesis; Visual impairment; Wide intermamillary distanceDisorders 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
PTEN10q23.3199.95%gene with protein productPromoter/regulatory variants are not captured by XomeDxSlice. 601728BZS, MHAMAbnormal form of the vertebral bodies; Abnormal heart morphology; Abnormal lung lobation; Abnormal pupil morphology; Abnormal subcutaneous fat tissue distribution; Abnormal vertebral morphology; Abnormality of metabolism/homeostasis; Abnormality of the eye; Abnormality of the fallopian tube; Abnormality of the large intestine; Abnormality of the parathyroid gland; Abnormality of the penis; Abnormality of the vasculature; Abnormally prominent line of Schwalbe; Absent thumb; Acanthosis nigricans; Acrokeratosis; Adenoma sebaceum; Adult onset; Amblyopia; Anal atresia; Angioid streaks of the fundus; Angiokeratoma; Aqueductal stenosis; Arteriovenous malformation; Asymmetry of the thorax; Ataxia; Atypical nevi in non-sun exposed areas; Atypical nevus; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Birth length greater than 97th percentile; Breast carcinoma; Broad forehead; Bronchogenic cyst; Cachexia; Cafe-au-lait spot; Calvarial hyperostosis; Capillary hemangiomas; Cataract; Cavernous hemangioma; Cognitive impairment; Colonic diverticula; Colorectal polyposis; Communicating hydrocephalus; Conjunctival hamartoma; Cranial nerve paralysis; Cutaneous melanoma; Decreased muscle mass; Delayed gross motor development; Delayed speech and language development; Depressed nasal bridge; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dysplastic gangliocytoma of the cerebellum; Endometrial carcinoma; Enlarged cerebellum; Epibulbar dermoid; Epidermal nevus; Excessive wrinkled skin; Exostoses; Fibroadenoma of the breast; Finger syndactyly; Follicular thyroid carcinoma; Frontal bossing; Furrowed tongue; Generalized hyperkeratosis; Generalized hypotonia; Genu recurvatum; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hand polydactyly; Hashimoto thyroiditis; Headache; Hearing impairment; Hemangioma; Hematochezia; Heterochromia iridis; High palate; Hydrocele testis; Hydrocephalus; Hyperostosis; Hypertelorism; Hyperthyroidism; Hypoglycemia; Hypoplasia of the maxilla; Hypothyroidism; Increased intracranial pressure; Intellectual disability; Intellectual disability, mild; Intention tremor; Intestinal polyposis; Intraocular melanoma; Intussusception; Irregular hyperpigmentation; Joint hypermobility; Juvenile onset; Kyphosis; Lipoma; Long penis; Long philtrum; Lower limb asymmetry; Lymphangioma; Lymphedema; Macrocephaly; Macrodactyly; Macroglossia; Macrotia; Macule; Mandibular prognathia; Melanocytic nevus; Meningioma; Micrognathia; Mucosal telangiectasiae; Multiple cafe-au-lait spots; Multiple lipomas; Myopathy; Myopia; Narrow mouth; Nausea and vomiting; Neoplasm of the breast; Neoplasm of the thyroid gland; Nevus; Non-medullary thyroid carcinoma; Numerous nevi; Obesity; Open bite; Ovarian carcinoma; Ovarian cyst; Ovarian neoplasm; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Polymicrogyria; Postnatal growth retardation; Postnatal macrocephaly; Primary peritoneal carcinoma; Progressive macrocephaly; Pseudopapilledema; Pulmonary embolism; Radial club hand; Reduced bone mineral density; Renal hypoplasia; Respiratory failure; Retinal detachment; Round face; Scoliosis; Seizures; Shagreen patch; Short nose; Short stature; Skeletal dysplasia; Skin tags; Squamous cell carcinoma; Stillbirth; Strabismus; Subcutaneous hemorrhage; Subcutaneous lipoma; Subcutaneous nodule; Supernumerary nipple; Thick corpus callosum; Thrombophlebitis; Thyroid adenoma; Thyroiditis; Transitional cell carcinoma of the bladder; Trichilemmoma; Upper limb asymmetry; Varicocele; Vascular skin abnormality; Venous insufficiency; Visceral angiomatosisInflammatory Bowel Disease ; Obesity; VACTERL Association
PTRH217q23.1100%gene with protein product608625Ataxia; Autosomal recessive inheritance; Brachycephaly; Cerebellar atrophy; Congenital onset; Distal muscle weakness; Exotropia; Failure to thrive; Generalized hypotonia; Global developmental delay; Hepatic fibrosis; Hepatomegaly; Hip dislocation; Hypertelorism; Hypothyroidism; Intellectual disability; Microcephaly; Midface retrusion; Pancreatic fibrosis; Progressive; Progressive microcephaly; Proximal placement of thumb; Sensorineural hearing impairment; Shawl scrotum; Short stature; Steatorrhea; Talipes equinovarus; Thin upper lip vermilion
ROBO13p12.399.97%gene with protein product602430Delayed puberty; Ectopic posterior pituitary; Failure to thrive; Hypoglycemia; Hypoplasia of penis; Hypothyroidism; Short stature
SALL116q12.1100%gene with protein product602218TBS2-3 toe syndactyly; 3-4 finger syndactyly; 3-4 toe syndactyly; Anal atresia; Anal stenosis; Anteriorly placed anus; Aplasia/Hypoplasia of the 3rd toe; Autosomal dominant inheritance; Bifid scrotum; Bifid uterus; Broad thumb; Chorioretinal coloboma; Clinodactyly of the 5th finger; Constipation; Cryptorchidism; Duodenal atresia; External ear malformation; Gastroesophageal reflux; Hearing impairment; Hypospadias; Hypothyroidism; Intellectual disability; Macrotia; Metatarsal synostosis; Microcephaly; Microtia; Overfolded helix; Overfolding of the superior helices; Partial duplication of thumb phalanx; Pes planus; Preauricular skin tag; Preaxial hand polydactyly; Pseudoepiphyses of second metacarpal; Rectoperineal fistula; Rectovaginal fistula; Renal insufficiency; Satyr ear; Short metatarsal; Stahl ear; Subcutaneous nodule; Tetralogy of Fallot; Toe clinodactyly; Triphalangeal thumb; Umbilical hernia; Urethral valve; Ventricular septal defectCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; VACTERL Association
SEMA3E7q21.11100%gene with protein product608166SEMAHAbnormal aortic valve morphology; Abnormal cardiac septum morphology; Abnormality of female internal genitalia; Abnormality of the soft palate; Anophthalmia; Anosmia; Anterior hypopituitarism; Aortic arch aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thymus; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid scrotum; Choanal atresia; Chorioretinal coloboma; Cleft palate; Cleft upper lip; Coloboma; Cryptorchidism; Decreased testicular size; Delayed eruption of teeth; Delayed puberty; Depressed nasal bridge; Dimple chin; Double outlet right ventricle; Downslanted palpebral fissures; Duodenal atresia; Dysphagia; Esophageal atresia; External ear malformation; Facial asymmetry; Facial palsy; Feeding difficulties; Feeding difficulties in infancy; Gastroesophageal reflux; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hearing impairment; Horseshoe kidney; Hydronephrosis; Hypocalcemia; Hypogonadotrophic hypogonadism; Hypoplasia of the semicircular canal; Hypothyroidism; Intellectual disability; Interrupted aortic arch; Iris coloboma; Labial hypoplasia; Low-set, posteriorly rotated ears; Lymphopenia; Malar flattening; Micropenis; Microphthalmia; Muscular hypotonia; Narrow face; Narrow mouth; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Overfolded helix; Parathyroid hypoplasia; Patent ductus arteriosus; Phenotypic variability; Polyhydramnios; Posterior choanal atresia; Postnatal growth retardation; Primary amenorrhea; Ptosis; Pulmonic stenosis; Short stature; Sparse axillary hair; Sparse pubic hair; Sporadic; Square face; Strabismus; Tetralogy of Fallot; Umbilical hernia; Ventricular septal defect
SLC16A2Xq13.299.93%gene with protein product300095DXS128, AHDS, MRX22Abnormal conjugate eye movement; Abnormality of the neck; Absent speech; Aphasia; Ataxia; Athetosis; Babinski sign; Bilateral single transverse palmar creases; Biparietal narrowing; Bowel incontinence; Clonus; Congenital onset; Delayed CNS myelination; Drooling; Dysarthria; Feeding difficulties in infancy; Flexion contracture; Generalized amyotrophy; Hallux valgus; Hyperreflexia; Hypoplasia of the musculature; Hypoplasia of the zygomatic bone; Hypothyroidism; Inability to walk; Increased thyroid-stimulating hormone level; Intellectual disability, progressive; Intellectual disability, severe; Irritability; Joint stiffness; Leukodystrophy; Macrotia; Microcephaly; Narrow face; Narrow forehead; Neonatal hypotonia; Open mouth; Pectus excavatum; Pes planus; Prominent antihelix; Scoliosis; Severe global developmental delay; Skeletal muscle atrophy; Spastic paraplegia; Spastic tetraplegia; Stahl ear; Underfolded superior helices; Upslanted palpebral fissure; Urinary incontinence; X-linked dominant inheritance
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
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
SLC5A519p13.1199.99%gene with protein product601843Abdominal distention; Autosomal recessive inheritance; Coarse facial features; Constipation; Dry skin; Fatigue; Global developmental delay; Goiter; Growth delay; Hypersomnia; Hypothyroidism; Intellectual disability; Jaundice; Large fontanelles; Lethargy; Macroglossia; Muscular hypotonia; Short stature; Umbilical hernia
SLC5A519p13.1199.99%gene with protein product601843Abdominal distention; Autosomal recessive inheritance; Coarse facial features; Constipation; Dry skin; Fatigue; Global developmental delay; Goiter; Growth delay; Hypersomnia; Hypothyroidism; Intellectual disability; Jaundice; Large fontanelles; Lethargy; Macroglossia; Muscular hypotonia; Short stature; Umbilical hernia
SOX3Xq27.199.53%gene with protein product313430PHPAbnormal prolactin level; Abnormality of secondary sexual hair; Agenesis of corpus callosum; Ambiguous genitalia; Amenorrhea; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Cleft palate; Cryptorchidism; Decreased circulating ACTH level; Decreased testicular size; Depressed nasal ridge; Fatigue; Global developmental delay; Growth hormone deficiency; Hemiplegia/hemiparesis; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypotension; Hypothyroidism; Infertility; Intellectual disability, mild; Male hypogonadism; Nystagmus; Panhypopituitarism; Pituitary dwarfism; Pituitary hypothyroidism; Polycystic ovaries; Seizures; Septo-optic dysplasia; Short stature; Strabismus; Visual impairment; X-linked inheritanceDisorders of Sex Development
SQSTM15q35.3100%gene with protein product601530PDB3, OSILAbnormal brain FDG positron emission tomography; Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral white matter; Absent Achilles reflex; Aggressive behavior; Amyotrophic lateral sclerosis; Anxiety; Apathy; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Brain stem compression; Bulbar palsy; Cerebral cortical atrophy; Collectionism; Cranial nerve paralysis; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysdiadochokinesis; Dysgraphia; Dyslexia; Dysmetria; Dysphagia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: myotonic discharges; EMG: positive sharp waves; Emotional blunting; Emotional lability; Facial palsy; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Fractures of the long bones; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized muscle weakness; Heterogeneous; Hip flexor weakness; Hydroxyprolinuria; Hyperorality; Hyperreflexia; Hyporeflexia; Hypothyroidism; Inappropriate behavior; Increased susceptibility to fractures; Increased variability in muscle fiber diameter; Irritability; Lack of insight; Language impairment; Limb ataxia; Limited shoulder movement; Limited wrist extension; Long-tract signs; Loss of speech; Memory impairment; Mental deterioration; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle fiber inclusion bodies; Mutism; Neurodegeneration; Nystagmus; Oculomotor apraxia; Osteolysis; Osteosarcoma; Pain; Paralysis; Paraparesis; Patchy osteosclerosis; Perseveration; Personality changes; Phenotypic variability; Poor speech; Premature loss of teeth; Progressive; Respiratory failure; Restlessness; Restrictive behavior; Rimmed vacuoles; Scapular winging; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spasticity; Steppage gait; Stereotypy; Tetraparesis; Thickened nuchal skin fold; Tibialis muscle weakness; Tremor; Variable expressivity; Vertebral compression fractures; Vertical supranuclear gaze palsy; Xerostomia
TANGO222q11.21100%gene with protein product616830C22orf25Acute rhabdomyolysis; Ataxia; Autosomal recessive inheritance; Cardiac arrest; Cerebral atrophy; Clonus; Drooling; Dysarthria; Elevated hepatic transaminases; Elevated plasma acylcarnitine levels; Elevated serum creatine phosphokinase; Gait ataxia; Gait disturbance; Generalized hypotonia; Hyperactive deep tendon reflexes; Hypothyroidism; Intellectual disability; Ketonuria; Lactic acidosis; Metabolic acidosis; Muscle weakness; Myoglobinuria; Myopathic facies; Neurodegeneration; Oral-pharyngeal dysphagia; Poor coordination; Ventricular fibrillationRhabdomyolysis
TBX122q11.2194.16%gene with protein product602054VCFAbnormal aortic arch morphology; Abnormal pulmonary valve morphology; Abnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the endocrine system; Abnormality of the hand; Abnormality of the middle ear; Abnormality of the pharynx; Abnormality of the thymus; Abnormality of the tonsils; Acne; Aggressive behavior; Amblyopia; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bipolar affective disorder; Blepharophimosis; Broad forehead; Broad hallux; Bulbous nose; Carious teeth; Cholelithiasis; Chronic otitis media; Cleft palate; Clinodactyly of the 5th finger; Coarctation of aorta; Complete atrioventricular canal defect; Conductive hearing impairment; Constipation; Corneal neovascularization; Delayed speech and language development; Depressed nasal ridge; Double outlet right ventricle; Downslanted palpebral fissures; Dysphasia; Epicanthus; Esophoria; Esotropia; Exotropia; Femoral hernia; Global developmental delay; High forehead; High, narrow palate; Hydronephrosis; Hypertelorism; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Hypothyroidism; Immunodeficiency; Impaired T cell function; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Interrupted aortic arch; Long face; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Mood swings; Muscular hypotonia; Myalgia; Narrow face; Nasal speech; Neurological speech impairment; Obesity; Occipital myelomeningocele; Open mouth; Overfolded helix; Paranoia; Parathyroid agenesis; Parathyroid hypoplasia; Patent ductus arteriosus; Pierre-Robin sequence; Platybasia; Postaxial polydactyly; Posterior embryotoxon; Preauricular pit; Prominent nasal bridge; Proptosis; Ptosis; Recurrent infections; Renal dysplasia; Renal hypoplasia; Retinal vascular tortuosity; Retrognathia; Right aortic arch with mirror image branching; Sclerocornea; Scoliosis; Seborrheic dermatitis; Seizures; Short neck; Short palpebral fissure; Short philtrum; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Transposition of the great arteries; Truncus arteriosus; Umbilical hernia; Underdeveloped nasal alae; Unilateral primary pulmonary dysgenesis; Unilateral renal agenesis; Upslanted palpebral fissure; Velopharyngeal insufficiency; Ventricular septal defect; Wide nasal bridgeAutoimmune Disorders ; Disorders of Sex Development; Primary Immunodeficiency
TG8q24.22100%gene with protein product188450Abdominal distention; Autosomal recessive inheritance; Coarse facial features; Compensated hypothyroidism; Constipation; Fatigue; Global developmental delay; Goiter; Hypersomnia; Hypothyroidism; Increased T3/T4 ratio; Intellectual disability; Jaundice; Large fontanelles; Macroglossia; Muscular hypotonia; Short stature; Thyroid carcinoma; Umbilical herniaCongenital Kidney and Urinary Tract (CKUT) Anomalies; Fanconi Anemia ; Inflammatory Bowel Disease ; Nephrotic Syndrome ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency; Rhabdomyolysis
THRA17q21.1100%gene with protein product190120THRA1, THRA2, ERBA1Abdominal distention; Anemia; Autosomal dominant inheritance; Coarse facial features; Congenital hip dislocation; Congenital hypothyroidism; Constipation; Delayed eruption of teeth; Delayed skeletal maturation; Drowsiness; Dry skin; Feeding difficulties; Growth delay; Hypertelorism; Hypothyroidism; Increased body weight; Increased T3/T4 ratio; Jaundice; Large fontanelles; Macroglossia; Muscular hypotonia; Omphalocele; Relative macrocephaly; Sleep disturbance; Thyroid hormone receptor defect; Umbilical hernia
THRB3p24.2100%gene with protein product190160ERBA2, PRTHAbdominal distention; Abnormality of the thyroid gland; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Coarse facial features; Constipation; Convex nasal ridge; Delayed skeletal maturation; Delayed speech and language development; Epiphyseal stippling; Feeding difficulties; Goiter; Hearing impairment; Hyperthyroidism; Hypothyroidism; Increased serum free triiodothyronine; Increased thyroid-stimulating hormone level; Jaundice; Large fontanelles; Macroglossia; Muscular hypotonia; Pectus carinatum; Proptosis; Sensorineural hearing impairment; Sleep disturbance; Small for gestational age; Sprengel anomaly; Thyroid hormone receptor defect; Umbilical hernia
TPO2p25.3100%gene with protein product606765Abdominal distention; Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Coarse facial features; Constipation; Fatigue; Global developmental delay; Goiter; Hypersomnia; Hypothyroidism; Intellectual disability; Jaundice; Large fontanelles; Macroglossia; Muscular hypotonia; Short stature; Thyroid defect in oxidation and organification of iodide; Umbilical hernia
TPO2p25.3100%gene with protein product606765Abdominal distention; Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Coarse facial features; Constipation; Fatigue; Global developmental delay; Goiter; Hypersomnia; Hypothyroidism; Intellectual disability; Jaundice; Large fontanelles; Macroglossia; Muscular hypotonia; Short stature; Thyroid defect in oxidation and organification of iodide; Umbilical hernia
TRHR8q23.1100%gene with protein product188545Coarse facial features; Constipation; Feeding difficulties; Generalized hypotonia; Global developmental delay; Growth delay; Hypothyroidism; Large posterior fontanelle; Macroglossia; Prolonged neonatal jaundice; Sleep disturbance; Umbilical hernia
TSC19q34100%gene with protein product605284TSCAbdominal pain; Abnormality of female internal genitalia; Abnormality of the respiratory system; Achromatic retinal patches; Adenoma sebaceum; Adult onset; Angiofibromas; Astrocytoma; Astrocytosis; Atelectasis; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Behavioral abnormality; Cafe-au-lait spot; Cardiac rhabdomyoma; Cerebral calcification; Chest pain; Chordoma; Chylothorax; Cognitive impairment; Confetti-like hypopigmented macules; Cortical dysplasia; Cortical tubers; Cough; Dental enamel pits; Dyspnea; EEG abnormality; Emphysema; Ependymoma; Focal seizures with impairment of consciousness or awareness; Focal white matter lesions; Gingival fibromatosis; Global developmental delay; Hematuria; Hemiparesis; Heterogeneous; Hypomelanotic macule; Hypopigmented skin patches; Hypothyroidism; Infantile onset; Infantile spasms; Intellectual disability; Lymphadenopathy; Multiple cafe-au-lait spots; Nevus flammeus; Optic atrophy; Optic nerve glioma; Papule; Phenotypic variability; Pneumothorax; Precocious puberty; Premature chromatid separation; Projection of scalp hair onto lateral cheek; Prominent occiput; Pulmonary infiltrates; Pulmonary lymphangiomyomatosis; Renal angiomyolipoma; Renal cell carcinoma; Renal cyst; Restrictive ventilatory defect; Retinal hamartoma; Seizures; Shagreen patch; Skin tags; Somatic mutation; Specific learning disability; Sporadic; Subcutaneous nodule; Subependymal giant-cell astrocytoma; Subependymal nodules; Subungual fibromas; Ungual fibroma; Wolff-Parkinson-White syndrome
TSC216p13.3100%gene with protein product191092TSC4Abdominal pain; Abnormality of female internal genitalia; Achromatic retinal patches; Adenoma sebaceum; Adult onset; Angiofibromas; Astrocytoma; Astrocytosis; Atelectasis; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Behavioral abnormality; Cafe-au-lait spot; Cardiac rhabdomyoma; Cerebral calcification; Chest pain; Chordoma; Chylothorax; Cognitive impairment; Confetti-like hypopigmented macules; Cortical dysplasia; Cortical tubers; Cough; Dyspnea; EEG abnormality; Emphysema; Ependymoma; Focal seizures with impairment of consciousness or awareness; Focal white matter lesions; Gingival fibromatosis; Global developmental delay; Hematuria; Hemiparesis; Heterogeneous; Hypopigmented skin patches; Hypothyroidism; Infantile onset; Infantile spasms; Intellectual disability; Lymphadenopathy; Multiple cafe-au-lait spots; Nevus flammeus; Optic atrophy; Optic nerve glioma; Papule; Phenotypic variability; Pneumothorax; Precocious puberty; Prominent occiput; Pulmonary infiltrates; Pulmonary lymphangiomyomatosis; Renal angiomyolipoma; Renal cell carcinoma; Renal cyst; Restrictive ventilatory defect; Retinal hamartoma; Seizures; Shagreen patch; Skin tags; Somatic mutation; Specific learning disability; Sporadic; Subcutaneous nodule; Subependymal giant-cell astrocytoma; Subependymal nodules; Subungual fibromas; Ungual fibroma; Wolff-Parkinson-White syndrome
TSHB1p13.2100%gene with protein product188540Abdominal distention; Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Coarse facial features; Congenital hypothyroidism; Constipation; Depressed nasal bridge; Fatigue; Feeding difficulties; Generalized hypotonia; Hoarse cry; Hypothyroidism; Intellectual disability, progressive; Intellectual disability, severe; Jaundice; Large fontanelles; Macroglossia; Muscular hypotonia; Omphalocele; Severe postnatal growth retardation; Sleep disturbance; Umbilical hernia; Wide anterior fontanel
TSHR14q24-q31100%gene with protein product603372Abdominal distention; Abnormality of metabolism/homeostasis; Accelerated skeletal maturation; Activating thyroid-stimulating hormone receptor defect; Agitation; Autosomal dominant inheritance; Autosomal recessive inheritance; Coarse facial features; Congenital hypothyroidism; Constipation; Delayed speech and language development; Diarrhea; Dry skin; Fatigue; Feeding difficulties; Global developmental delay; Goiter; Hand tremor; Hoarse cry; Hyperactivity; Hyperemesis gravidarum; Hypersomnia; Hyperthyroidism; Hypothyroidism; Increased thyroid-stimulating hormone level; Infantile onset; Intellectual disability; Intellectual disability, severe; Jaundice; Large fontanelles; Macroglossia; Motor delay; Muscle weakness; Muscular hypotonia; Premature birth; Short stature; Sleep disturbance; Small for gestational age; Sporadic; Tachycardia; Thyroid agenesis; Thyroid hyperplasia; Thyroid hypoplasia; Thyrotoxicosis with diffuse goiter; Umbilical hernia; Weight loss
TSHR14q24-q31100%gene with protein product603372Abdominal distention; Abnormality of metabolism/homeostasis; Accelerated skeletal maturation; Activating thyroid-stimulating hormone receptor defect; Agitation; Autosomal dominant inheritance; Autosomal recessive inheritance; Coarse facial features; Congenital hypothyroidism; Constipation; Delayed speech and language development; Diarrhea; Dry skin; Fatigue; Feeding difficulties; Global developmental delay; Goiter; Hand tremor; Hoarse cry; Hyperactivity; Hyperemesis gravidarum; Hypersomnia; Hyperthyroidism; Hypothyroidism; Increased thyroid-stimulating hormone level; Infantile onset; Intellectual disability; Intellectual disability, severe; Jaundice; Large fontanelles; Macroglossia; Motor delay; Muscle weakness; Muscular hypotonia; Premature birth; Short stature; Sleep disturbance; Small for gestational age; Sporadic; Tachycardia; Thyroid agenesis; Thyroid hyperplasia; Thyroid hypoplasia; Thyrotoxicosis with diffuse goiter; Umbilical hernia; Weight loss
TSHR14q24-q31100%gene with protein product603372Abdominal distention; Abnormality of metabolism/homeostasis; Accelerated skeletal maturation; Activating thyroid-stimulating hormone receptor defect; Agitation; Autosomal dominant inheritance; Autosomal recessive inheritance; Coarse facial features; Congenital hypothyroidism; Constipation; Delayed speech and language development; Diarrhea; Dry skin; Fatigue; Feeding difficulties; Global developmental delay; Goiter; Hand tremor; Hoarse cry; Hyperactivity; Hyperemesis gravidarum; Hypersomnia; Hyperthyroidism; Hypothyroidism; Increased thyroid-stimulating hormone level; Infantile onset; Intellectual disability; Intellectual disability, severe; Jaundice; Large fontanelles; Macroglossia; Motor delay; Muscle weakness; Muscular hypotonia; Premature birth; Short stature; Sleep disturbance; Small for gestational age; Sporadic; Tachycardia; Thyroid agenesis; Thyroid hyperplasia; Thyroid hypoplasia; Thyrotoxicosis with diffuse goiter; Umbilical hernia; Weight loss
UBR115q15.299.61%gene with protein product605981Abnormal hair pattern; Abnormality of the nail; Abnormality of the vagina; Absent lacrimal punctum; Agenesis of permanent teeth; Alopecia; Anal atresia; Anasarca; Anemia; Anteriorly placed anus; Aplasia cutis congenita of scalp; Atrial septal defect; Autosomal recessive inheritance; Cafe-au-lait spot; Calvarial skull defect; Clinodactyly of the 5th finger; Clitoral hypertrophy; Colonic diverticula; Convex nasal ridge; Cryptorchidism; Death in childhood; Delayed eruption of teeth; Delayed skeletal maturation; Diabetes mellitus; Exocrine pancreatic insufficiency; Failure to thrive; Fair hair; Frontal upsweep of hair; Generalized hypotonia; Hydronephrosis; Hypocalcemia; Hypoplasia of the primary teeth; Hypoplastic nipples; Hypoproteinemia; Hypospadias; Hypothyroidism; Increased circulating very-low-density lipoprotein levels; Intellectual disability; Intrauterine growth retardation; Joint laxity; Lacrimation abnormality; Malabsorption; Microcephaly; Microdontia; Micropenis; Midline skin dimples over anterior/posterior fontanelles; Oligodontia; Rectovaginal fistula; Sensorineural hearing impairment; Septate vagina; Short nose; Short stature; Single transverse palmar crease; Situs inversus totalis; Small for gestational age; Sparse scalp hair; Strabismus; Underdeveloped nasal alae; Urethrovaginal fistula; Ventricular septal defectDisorders of Sex Development; Heterotaxy
WDR1110q26.1299.99%gene with protein product606417BRWD2Abnormality of body height; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Anosmia; Anterior hypopituitarism; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Depressivity; Ectopic posterior pituitary; Erectile abnormalities; Eunuchoid habitus; Failure to thrive; Female hypogonadism; Gynecomastia; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Impotence; Increased female libido; Male hypogonadism; Micropenis; Non-obstructive azoospermia; Osteopenia; Osteoporosis; Primary amenorrhea; Reduced bone mineral density; Secondary amenorrhea; Short stature; Sparse axillary hair; Sparse body hair; Sparse pubic hair; Wide intermamillary distance
WFS14p16.1100%gene with protein product606201DFNA6, DFNA14, DFNA38Abnormality of mesentery morphology; Abnormality of the pinna; Abnormality of the upper urinary tract; Anxiety; Ataxia; Autistic behavior; Autosomal dominant inheritance; Autosomal recessive inheritance; Behavioral abnormality; Cardiomyopathy; Central diabetes insipidus; Cerebral atrophy; Congenital cataract; Congenital sensorineural hearing impairment; Delayed puberty; Dementia; Depressivity; Diabetes insipidus; Diabetes mellitus; Dysarthria; Dysphagia; Dysuria; Feeding difficulties in infancy; Gastrointestinal dysmotility; Glaucoma; Glucose intolerance; Growth delay; Hearing impairment; Hydronephrosis; Hydroureter; Hypothyroidism; Intellectual disability; Limited mobility of proximal interphalangeal joint; Low-frequency sensorineural hearing impairment; Male hypogonadism; Megaloblastic anemia; Nephropathy; Neurogenic bladder; Nuclear cataract; Nystagmus; Optic atrophy; Peripheral axonal neuropathy; Pigmentary retinopathy; Polydipsia; Primary gonadal insufficiency; Progressive cerebellar ataxia; Progressive sensorineural hearing impairment; Psychosis; Ptosis; Recurrent urinary tract infections; Seizures; Sensorineural hearing impairment; Sideroblastic anemia; Stroke-like episode; Testicular atrophy; Thrombocytopenia; TremorDisorders of Sex Development
XRCC45q14.2100%gene with protein product194363Abnormality of chromosome stability; Abnormality of lipid metabolism; Acanthosis nigricans; Acute leukemia; Autosomal recessive inheritance; Biparietal narrowing; Bird-like facies; Brachycephaly; Broad nasal tip; Broad-based gait; Cerebellar vermis atrophy; Cognitive impairment; Convex nasal ridge; Cortical gyral simplification; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Delayed speech and language development; Diabetes mellitus; Dysarthria; Dysdiadochokinesis; Dysmetria; Ectopic kidney; Epicanthus; Erythema; Global developmental delay; Growth delay; Hepatic steatosis; High forehead; High pitched voice; Hypertriglyceridemia; Hypotelorism; Hypothyroidism; Inguinal hernia; Insulin resistance; Insulin-resistant diabetes mellitus; Intellectual disability; Intrauterine growth retardation; Large beaked nose; Limb undergrowth; Long face; Long nose; Low anterior hairline; Lymphoma; Lymphopenia; Malar prominence; Microcephaly; Micrognathia; Micropenis; Misalignment of teeth; Nystagmus; Pancytopenia; Primary gonadal insufficiency; Prominent nasal bridge; Renal hypoplasia; Sensory neuropathy; Severe combined immunodeficiency; Severe short-limb dwarfism; Short chin; Short stature; Sloping forehead; Telecanthus; Thin vermilion border; Triangular face; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridgeObesity


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome