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
Abnormality of metabolism/homeostasis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCB7Xq13.399.99%gene with protein product300135ABC7Abnormality of metabolism/homeostasis; Abnormality of movement; Anemia; Ataxia; Babinski sign; Clonus; Dysarthria; Dysdiadochokinesis; Dysmetria; Global developmental delay; Hyperreflexia; Hypochromic microcytic anemia; Intention tremor; Juvenile onset; Neurological speech impairment; Nonprogressive cerebellar ataxia; Nystagmus; Sideroblastic anemia; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes
ACOX117q25.1100%gene with protein product609751Abnormal electroretinogram; Abnormality of metabolism/homeostasis; Abnormality of nervous system morphology; Abnormality of visual evoked potentials; Autosomal recessive inheritance; Babinski sign; Bilateral sensorineural hearing impairment; Brachycephaly; CNS demyelination; Death in infancy; Decreased light- and dark-adapted electroretinogram amplitude; Depressed nasal bridge; Developmental regression; Diffuse hepatic steatosis; Dysphagia; Dystonia; EEG abnormality; Elevated hepatic transaminases; Epicanthus; Failure to thrive; Frontal bossing; Gait disturbance; Global developmental delay; Hepatomegaly; Hyperreflexia; Hypertelorism; Hypertonia; Hypodontia; Infantile onset; Intellectual disability, progressive; Intellectual disability, severe; Inverted nipples; Irritability; Leukodystrophy; Low-set ears; Muscular hypotonia; Myopia; Neonatal hypotonia; Neurological speech impairment; No social interaction; Nystagmus; Optic atrophy; Pigmentary retinopathy; Respiratory insufficiency; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Strabismus; Tapetoretinal degeneration; Wide nasal bridge
ACTB7p22.1100%gene with protein product102630Abnormality of metabolism/homeostasis; Achalasia; Agenesis of corpus callosum; Anteverted nares; Aortic valve stenosis; Aphasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicuspid aortic valve; Blindness; Cataract; Cerebral cortical hemiatrophy; Chorioretinal coloboma; Cleft palate; Cleft upper lip; Coarse facial features; Cryptorchidism; Death in early adulthood; Delayed cranial suture closure; Depressed nasal tip; Downslanted palpebral fissures; Dysphagia; Dysphasia; Echolalia; Epicanthus; Euryblepharon; Externally rotated hips; Failure to thrive; Feeding difficulties; Full cheeks; Generalized dystonia; Generalized hypotonia; Global developmental delay; Growth delay; Hamartoma; Heterochromia iridis; High forehead; Highly arched eyebrow; Hydronephrosis; Hydroureter; Hypermelanotic macule; Hypertelorism; Hypoplastic scapulae; Immunodeficiency; Intellectual disability; Intellectual disability, mild; Iris coloboma; Joint stiffness; Kyphoscoliosis; Kyphosis; Large fontanelles; Lipoatrophy; Lissencephaly; Long nose; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Macroglossia; Macrogyria; Mental deterioration; Microcephaly; Micrognathia; Micromelia; Micropenis; Mild global developmental delay; Mutism; Oral cleft; Osteochondrosis; Overfolded helix; Pachygyria; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pointed chin; Polymicrogyria; Postnatal growth retardation; Prominent metopic ridge; Prominent nose; Ptosis; Retinoschisis; Retrognathia; Scoliosis; Seizures; Sensorineural hearing impairment; Short columella; Short neck; Short nose; Short stature; Shoulder girdle muscle atrophy; Skeletal dysplasia; Small for gestational age; Specific learning disability; Subcortical cerebral atrophy; Supernumerary nipple; Telecanthus; Thin upper lip vermilion; Thin vermilion border; Trigonocephaly; Wide mouth; Wide nasal bridge; Wide nose
AFF2Xq2899.91%gene with protein productXomeDxSlice can detect sequencing variants but not FRAXE repeat expansions in this gene.300806FMR2Abnormality of metabolism/homeostasis; Aggressive behavior; Agitation; Delayed speech and language development; Epicanthus; Hyperactivity; Impulsivity; Intellectual disability; Obsessive-compulsive behavior; Prominent nasal bridge; X-linked recessive inheritance
AGA4q34.399.92%gene with protein product613228Abnormal cortical bone morphology; Abnormality of amino acid metabolism; Abnormality of metabolism/homeostasis; Abnormality of the ulna; Acne; Angiokeratoma corporis diffusum; Anterior beaking of lumbar vertebrae; Anteverted nares; Aspartylglucosaminuria; Autosomal recessive inheritance; Beaking of vertebral bodies; Brachycephaly; Broad face; Carious teeth; Cataract; Cerebral atrophy; Coarse facial features; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Diarrhea; Dyskinesia; Dysostosis multiplex; Generalized hypotonia; Gingival overgrowth; Hepatomegaly; Hernia; Hoarse voice; Hypertelorism; Hypoplastic frontal sinuses; Intellectual disability; Joint laxity; Kyphosis; Large face; Macroglossia; Macroorchidism; Mandibular prognathia; Microcephaly; Microtia; Mitral regurgitation; Neurological speech impairment; Neutropenia; Pathologic fracture; Pectus carinatum; Platyspondyly; Recurrent respiratory infections; Scoliosis; Seizures; Short nose; Short stature; Spasticity; Spondylolisthesis; Spondylolysis; Thick lower lip vermilion; Thick vermilion border; Thickened calvaria; Umbilical hernia; Vacuolated lymphocytes; Wide mouth; Wide nasal bridgePalmoplantar keratoderma plus congenital ichthyosis
AKT114q32.3399.98%gene with protein product164730Abnormal form of the vertebral bodies; Abnormal lung lobation; Abnormal subcutaneous fat tissue distribution; Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system; Abnormality of the penis; Adenoma sebaceum; Adult onset; Angioid streaks of the fundus; Arteriovenous malformation; Asymmetry of the thorax; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Bronchogenic cyst; Cachexia; Calvarial hyperostosis; Capillary hemangiomas; Cataract; Cavernous hemangioma; Cognitive impairment; Colonic diverticula; Colorectal polyposis; Conjunctival hamartoma; Decreased muscle mass; Deep venous thrombosis; Depigmentation/hyperpigmentation of skin; Depressed nasal bridge; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Epibulbar dermoid; Epidermal acanthosis; Epidermal nevus; Facial hyperostosis; Fibroadenoma of the breast; Finger syndactyly; Furrowed tongue; Generalized hyperkeratosis; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hemihypertrophy; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; High palate; Hydrocele testis; Hyperkeratosis; Hypertelorism; Hyperthyroidism; Hypertrophy of skin of soles; Hypoplasia of the maxilla; Hypothyroidism; Infantile onset; Intellectual disability; Intellectual disability, moderate; Intention tremor; Irregular hyperpigmentation; Kyphoscoliosis; Kyphosis; Lipoma; Long face; Lower limb asymmetry; Lymphangioma; Lymphedema; Macrocephaly; Macrodactyly; Macroglossia; Macrotia; Macule; Mandibular hyperostosis; Melanocytic nevus; Meningioma; Micrognathia; Mucosal telangiectasiae; Multiple cafe-au-lait spots; Multiple lipomas; Myopia; Narrow mouth; Neoplasm of the stomach; Open mouth; Ovarian cyst; Ovarian papillary adenocarcinoma; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Progressive; Progressive macrocephaly; Ptosis; Pulmonary embolism; Renal cell carcinoma; Round face; Scoliosis; Seizures; Skeletal dysplasia; Skin tags; Somatic mutation; Spinal canal stenosis; Spinal cord compression; Splenomegaly; Sporadic; Subcutaneous lipoma; Subcutaneous nodule; Thin bony cortex; Thrombophlebitis; Thyroid adenoma; Thyroiditis; Transitional cell carcinoma of the bladder; Upper limb asymmetry; Uterine leiomyosarcoma; Varicocele; Vascular skin abnormality; Venous malformation; Visceral angiomatosis
ALDH5A16p22.3100%gene with protein product610045Abnormality of eye movement; Abnormality of metabolism/homeostasis; Absence seizures; Aggressive behavior; Anxiety; Ataxia; Autism; Autosomal recessive inheritance; Behavioral abnormality; Delayed speech and language development; EEG abnormality; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hallucinations; Hyperactivity; Hyperkinesis; Hyporeflexia; Infantile onset; Intellectual disability; Motor delay; Muscular hypotonia; Phenotypic variability; Psychosis; Self-injurious behavior; Status epilepticus
ALDH5A16p22.3100%gene with protein product610045Abnormality of eye movement; Abnormality of metabolism/homeostasis; Absence seizures; Aggressive behavior; Anxiety; Ataxia; Autism; Autosomal recessive inheritance; Behavioral abnormality; Delayed speech and language development; EEG abnormality; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hallucinations; Hyperactivity; Hyperkinesis; Hyporeflexia; Infantile onset; Intellectual disability; Motor delay; Muscular hypotonia; Phenotypic variability; Psychosis; Self-injurious behavior; Status epilepticus
ALDH7A15q23.2100%gene with protein product107323ATQ1Abnormality of metabolism/homeostasis; Abnormality of movement; Autosomal recessive inheritance; Delayed speech and language development; EEG abnormality; Fetal distress; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Intellectual disability; Muscular hypotonia; Neonatal respiratory distress; Neurological speech impairment; Prenatal movement abnormality; Respiratory distress; Status epilepticus
ALDH7A15q23.2100%gene with protein product107323ATQ1Abnormality of metabolism/homeostasis; Abnormality of movement; Autosomal recessive inheritance; Delayed speech and language development; EEG abnormality; Fetal distress; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Intellectual disability; Muscular hypotonia; Neonatal respiratory distress; Neurological speech impairment; Prenatal movement abnormality; Respiratory distress; Status epilepticus
AMELXXp22.2100%gene with protein product300391AMG, AIH1Abnormality of metabolism/homeostasis; Amelogenesis imperfecta; Anterior open bite; Hypoplasia of dental enamel; Microdontia; Phenotypic variability; X-linked dominant inheritance
ANTXR12p13.398%gene with protein product606410Abnormal form of the vertebral bodies; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral vasculature; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the palate; Alopecia; Anteverted nares; Autosomal recessive inheritance; Breast hypoplasia; Broad forehead; Delayed cranial suture closure; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Early balding; Everted lower lip vermilion; Frontal bossing; Glaucoma; Growth delay; High forehead; Hyperextensible skin; Hypertelorism; Hypoplastic nipples; Hypotrichosis; Joint hyperflexibility; Keratoconus; Long philtrum; Low-set ears; Mandibular prognathia; Micrognathia; Midface retrusion; Nystagmus; Optic atrophy; Palpebral edema; Prematurely aged appearance; Prominent scalp veins; Protruding ear; Short stature; Skin tags; Sparse and thin eyebrow; Sparse eyelashes; Thick lower lip vermilion; Thick nasal alae; Tubulointerstitial fibrosis; Umbilical hernia; Underdeveloped supraorbital ridges; Unerupted tooth; Visual impairment; Wide anterior fontanel
ATIC2q35100%gene with protein product601731Abnormality of metabolism/homeostasis; Abnormality of the skin; Anteverted nares; Atrial septal defect; Autosomal recessive inheritance; Brachycephaly; Clitoral hypertrophy; Congenital blindness; Frontal bossing; Fused labia minora; Generalized hypotonia; Intellectual disability, profound; Intellectual disability, severe; Low-set ears; Optic atrophy; Prominent forehead; Prominent nasal bridge; Seizures; Thin upper lip vermilion; Wide mouth
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
AVP20p13100%gene with protein product192340ARVPAbnormality of metabolism/homeostasis; Autosomal dominant inheritance; Central diabetes insipidus; Diabetes insipidus; Diarrhea; Fever; Gliosis; Growth delay; Hypertelorism; Irritability; Lethargy; Long philtrum; Osteopenia; Polydipsia; Short nose; Vomiting; Weight loss; Wide nose
BPGM7q33100%gene with protein product613896Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Cholecystitis; Cholelithiasis; Jaundice; Nonspherocytic hemolytic anemia; Normochromic anemia; Normocytic anemia; Splenomegaly
CACNA1FXp11.2399.91%gene with protein product300110CSNB2, AIEDAbnormal electroretinogram; Abnormal light- and dark-adapted electroretinogram; Abnormality of color vision; Abnormality of macular pigmentation; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Albinism; Astigmatism; Central scotoma; Cone/cone-rod dystrophy; Congenital stationary night blindness; Difficulty adjusting from light to dark; Heterogeneous; High myopia; Hypopigmentation of the fundus; Hypoplasia of the fovea; Myopia; Nyctalopia; Nystagmus; Optic disc hypoplasia; Photophobia; Reduced visual acuity; Severe visual impairment; Visual impairment; X-linked inheritance; X-linked recessive inheritance
CAV33p25.3100%gene with protein product601253Abnormality of metabolism/homeostasis; Adult onset; Arrhythmia; Asymmetric septal hypertrophy; Autosomal dominant inheritance; Autosomal recessive inheritance; Calf muscle hypertrophy; Childhood onset; Congestive heart failure; Elevated serum creatine phosphokinase; EMG abnormality; Exercise-induced muscle cramps; Exercise-induced muscle stiffness; Exercise-induced myalgia; Gowers sign; Heterogeneous; Muscle cramps; Muscle hyperirritability; Muscle mounding; Muscular dystrophy; Myalgia; Percussion-induced rapid rolling muscle contractions; Pes cavus; Prolonged QT interval; Skeletal muscle hypertrophy; Subvalvular aortic stenosis; Sudden death; Ventricular arrhythmia
CDH116q22.1100%gene with protein product192090UVOAbnormality of metabolism/homeostasis; Abnormality of vision; Autosomal dominant inheritance; Bilateral cleft lip and palate; Breast carcinoma; Carious teeth; Chronic atrophic gastritis; Cleft upper lip; Clinodactyly; Conductive hearing impairment; Conical tooth; Distichiasis; Dysgerminoma; Ectropion of lower eyelids; Endometrial carcinoma; Euryblepharon; Finger syndactyly; Hypertelorism; Hypodontia; Ovarian papillary adenocarcinoma; Small nail; Stomach cancerEctodermal Dysplasia
CDSN6p21.3399.98%gene with protein product602593Abnormality of metabolism/homeostasis; Asthma; Autosomal dominant inheritance; Autosomal recessive inheritance; Brittle hair; Congenital onset; Erythema; Hypotrichosis of the scalp; Increased IgE level; Onycholysis; Pruritus; Scaling skin; Short staturePalmoplantar keratoderma plus congenital ichthyosis
CFC12q21.129.83%gene with protein productXomeDxSlice is not appropriate.605194HTX2Abdominal situs inversus; Abnormality of metabolism/homeostasis; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad hallux; Coarctation of aorta; Complete atrioventricular canal defect; Double outlet right ventricle; Incomplete penetrance; Intestinal malrotation; Left atrial isomerism; Mesocardia; Polysplenia; Postaxial polydactyly; Pyloric stenosis; Situs inversus totalis; Transposition of the great arteries; Truncus arteriosus
CFPXp11.2399.32%gene with protein product300383PFCAbnormality of metabolism/homeostasis; Dysfunctional alternative complement pathway; X-linked recessive inheritance
CHEK222q12.199.84%gene with protein product604373RAD53Abnormal lactate dehydrogenase activity; Abnormality of metabolism/homeostasis; Abnormality of the fallopian tube; Abnormality of the femoral metaphysis; Abnormality of the tibial metaphysis; Autosomal dominant inheritance; Breast carcinoma; Elevated alkaline phosphatase; Glioma; Joint swelling; Lymphoma; Meningioma; Neoplasm of the adrenal cortex; Neoplasm of the colon; Neoplasm of the nervous system; Neoplasm of the pancreas; Neoplasm of the skin; Osteolysis; Osteosarcoma; Ovarian neoplasm; Pain; Primary peritoneal carcinoma; Progressive encephalopathy; Retinoblastoma; Sarcoma; Stomach cancerAplastic Anemia
CHST616q23.1100%gene with protein product605294MCDC1Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Corneal dystrophy; Juvenile onset; Macular dystrophy; Photophobia; Punctate opacification of the cornea; Recurrent corneal erosions
COL7A13p21.31100%gene with protein product120120EBDCT, EBD1, EBR1Abnormal blistering of the skin; Abnormal toenail morphology; Abnormality of metabolism/homeostasis; Abnormality of the anus; Abnormality of the fingernails; Abnormality of the vagina; Absent fingernail; Absent toenail; Alopecia; Anemia; Ankyloglossia; Aplasia cutis congenita; Atrophic scars; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Carious teeth; Cataract; Cheilitis; Congenital localized absence of skin; Congenital onset; Conjunctivitis; Constipation; Corneal erosion; Corneal scarring; Delayed puberty; Dermal atrophy; Dysphagia; Dystrophic fingernails; Dystrophic toenail; Ectropion; Esophageal stricture; Flexion contracture; Fragile skin; Growth delay; Hyperkeratosis; Hypopigmented skin patches; Hypoplasia of dental enamel; Loss of eyelashes; Malnutrition; Microglossia; Milia; Mitten deformity; Nail dysplasia; Nail dystrophy; Narrow mouth; Oral mucosal blisters; Osteopenia; Osteoporosis; Papule; Pretibial blistering; Progressive visual loss; Pruritus; Refractory anemia; Scarring alopecia of scalp; Skin erosion; Skin nodule; Skin vesicle; Spontaneous esophageal perforation; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Thin skin; Tongue atrophy
CPN110q24.2100%gene with protein product603103Abnormality of metabolism/homeostasis; Abnormality of the skin; Autosomal recessive inheritance
CPOX3q11.2100%gene with protein product612732CPOAbdominal pain; Abnormal blistering of the skin; Abnormality of metabolism/homeostasis; Acute episodes of neuropathic symptoms; Anxiety; Autosomal dominant inheritance; Confusion; Congenital hemolytic anemia; Constipation; Cutaneous photosensitivity; Depressivity; Diarrhea; Hallucinations; Hepatomegaly; Hypermelanotic macule; Hypertension; Incomplete penetrance; Insomnia; Irritability; Jaundice; Myalgia; Nausea and vomiting; Paranoia; Peripheral neuropathy; Respiratory paralysis; Splenomegaly; Tachycardia; Thin skin; Vomiting
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
CTSD11p15.5100%gene with protein product116840CPSDAbnormality of metabolism/homeostasis; Apnea; Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Congenital onset; Increased neuronal autofluorescent lipopigment; Intellectual disability, progressive; Intellectual disability, severe; Low-set ears; Mental deterioration; Microcephaly; Neuronal loss in central nervous system; Premature closure of fontanelles; Respiratory failure; Retinal atrophy; Rigidity; Rod-cone dystrophy; Sloping forehead; Spasticity; Status epilepticus; Visual loss; Wide nasal bridge
CYB5A18q22.3100%gene with protein product613218CYB5Abnormality of creatine metabolism; Abnormality of metabolism/homeostasis; Absence of secondary sex characteristics; Autosomal recessive inheritance; Cryptorchidism; Cyanosis; Decreased fertility in females; Decreased fertility in males; Decreased serum estradiol; Decreased serum testosterone level; Decreased testicular size; Delayed puberty; Delayed skeletal maturation; Dysmenorrhea; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Enlarged polycystic ovaries; Hypergonadotropic hypogonadism; Hypoplasia of the uterus; Hypoplasia of the vagina; Hypospadias; Infantile onset; Male pseudohermaphroditism; Methemoglobinemia; Micropenis; Osteoporosis; Primary amenorrhea; Primary gonadal insufficiency; Short stature; Sparse axillary hair; Sparse body hair; Sparse pubic hairDisorders of Sex Development
CYP2A619q13.2100%gene with protein product122720CYP2A3Abnormality of blood and blood-forming tissues; Abnormality of metabolism/homeostasis; Autosomal dominant inheritance
CYP2C910q23.3399.98%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. 601130CYP2C10Abnormality of blood and blood-forming tissues; Abnormality of metabolism/homeostasis; Autosomal dominant inheritance
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
DICER114q32.1399.95%gene with protein product606241MNG1Abnormality of metabolism/homeostasis; Autosomal dominant inheritance; Basal cell carcinoma; Colorectal polyposis; Embryonal rhabdomyosarcoma; Euthyroid multinodular goiter; Familial predisposition; Medulloblastoma; Multinodular goiter; Ovarian neoplasm; Papillary thyroid carcinoma; Pleuropulmonary blastoma; Renal cell carcinoma; Rhabdomyosarcoma; Sertoli cell neoplasm; Testicular seminoma
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
EPM2A6q24.399.94%gene with protein product607566Abnormality of metabolism/homeostasis; Absence seizures; Apraxia; Autosomal recessive inheritance; Cutaneous photosensitivity; Dementia; Gait disturbance; Generalized myoclonic seizures; Generalized tonic-clonic seizures with focal onset; Hepatic failure; Heterogeneous; Myoclonus; Progressive neurologic deterioration; Psychosis; Rapidly progressive; Simple partial occipital seizures; Visual auras; Visual hallucinations; Visual loss
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
FLNAXq2899.99%gene with protein product300017FLN1, FLN, OPD2, OPD1Abdominal distention; Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormal facial shape; Abnormal foot bone ossification; Abnormal form of the vertebral bodies; Abnormal hand bone ossification; Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormal vertebral segmentation and fusion; Abnormality of dental morphology; Abnormality of metabolism/homeostasis; Abnormality of neuronal migration; Abnormality of skin pigmentation; Abnormality of the coagulation cascade; Abnormality of the fifth metatarsal bone; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the ribs; Absent frontal sinuses; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Accessory carpal bones; Anisospondyly; Ankle contracture; Anodontia; Antegonial notching of mandible; Anterior concavity of thoracic vertebrae; Anteriorly placed odontoid process; Aortic regurgitation; Arachnodactyly; Bicuspid aortic valve; Bipartite calcaneus; Bowing of the long bones; Brachydactyly; Broad distal phalanx of the thumb; Broad face; Broad forehead; Broad hallux; Broad phalanges of the hand; Broad thumb; Bulbous tips of toes; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Cerebellar hypoplasia; Cleft palate; Coarse facial features; Coarse hair; Coat hanger sign of ribs; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Congenital hip dislocation; Congestive heart failure; Constipation; Cor pulmonale; Coxa valga; Craniofacial hyperostosis; Cryptorchidism; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Facial asymmetry; Failure to thrive; Feeding difficulties in infancy; Femoral bowing; Fibroma; Fibular aplasia; Flared iliac wings; Flared metaphysis; Flat face; Focal seizures; Frontal bossing; Frontal hirsutism; Full cheeks; Fused cervical vertebrae; Gait disturbance; Gastroesophageal reflux; Genu valgum; Global developmental delay; Glossoptosis; Hearing impairment; Hernia; Heterotopia; High palate; Hip dislocation; Hirsutism; Hoarse voice; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the musculature; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic scapulae; Hypospadias; Hypotrichosis; Increased bone mineral density; Increased density of long bone diaphyses; Increased mean platelet volume; Increased size of the mandible; Infantile onset; Intellectual disability; Intellectual disability, mild; Intestinal hypoplasia; Intestinal malrotation; Intestinal pseudo-obstruction; Iris coloboma; Irregular metacarpals; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Large fontanelles; Large foramen magnum; Large forehead; Lateral femoral bowing; Limitation of joint mobility; Limited elbow extension; Limited knee flexion; Lipoatrophy; Localized skin lesion; Long fingers; Long foot; Long metacarpals; Long neck; Long phalanx of finger; Low-set ears; Macrotia; Malar flattening; Micrognathia; Midface retrusion; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Motor delay; Multiple impacted teeth; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow chest; Narrow mouth; Neonatal hypotonia; Nonossified fifth metatarsal; Obtuse angle of mandible; Oligodontia; Omphalocele; Osteolytic defects of the phalanges of the hand; Overlapping fingers; Partial fusion of carpals; Partial fusion of tarsals; Patent ductus arteriosus; Pectus excavatum; Periventricular gray matter heterotopia; Persistence of primary teeth; Pes planus; Pierre-Robin sequence; Platyspondyly; Pointed chin; Postaxial hand polydactyly; Posterior vertebral hypoplasia; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Prominent occiput; Prominent supraorbital ridges; Proptosis; Proximal placement of thumb; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Pyloric stenosis; Radial bowing; Radial deviation of the 2nd finger; Recurrent otitis media; Recurrent respiratory infections; Reduced number of teeth; Respiratory failure; Rocker bottom foot; Rudimentary fibula; Sandal gap; Scapular winging; Sclerosis of skull base; Scoliosis; Seizures; Selective tooth agenesis; Sensorineural hearing impairment; Short 3rd metacarpal; Short 4th metacarpal; Short 5th metacarpal; Short chin; Short chordae tendineae of the mitral valve; Short chordae tendineae of the tricuspid valve; Short clavicles; Short distal phalanx of finger; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short nose; Short palm; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Small face; Smooth philtrum; Spondylolysis; Stillbirth; Strabismus; Stridor; Stroke; Synostosis of carpal bones; Talipes equinovarus; Thick skull base; Thickened calvaria; Thin skin; Thrombocytopenia; Tibial bowing; Toe clinodactyly; Toe syndactyly; Tricuspid regurgitation; Tricuspid valve prolapse; Ulnar bowing; Ulnar deviation of finger; Underdeveloped superior crus of antihelix; Undulate clavicles; Ureteral obstruction; Ureteral stenosis; Vertical clivus; Vesicoureteral reflux; Vomiting; Wide anterior fontanel; Wide nasal bridge; Wormian bones; Wrist flexion contracture; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
FLVCR214q24.3100%gene with protein product610865C14orf58Abnormality of metabolism/homeostasis; Agenesis of corpus callosum; Autosomal recessive inheritance; Cerebellar hypoplasia; Dandy-Walker malformation; Flexion contracture; Hydranencephaly; Hydrocephalus; Hypoplasia of the brainstem; Intrauterine growth retardation; Micrognathia; Polyhydramnios; Premature birth
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
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
FSHB11p14.1100%gene with protein product136530Abnormal sperm morphology; Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Azoospermia; Bilateral breast hypoplasia; Decreased female libido; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed menarche; Delayed skeletal maturation; Female hypogonadism; Gonadotropin deficiency; Hyperplasia of the Leydig cells; Hypogonadotrophic hypogonadism; Infertility; Male hypogonadism; Oligomenorrhea; Oligospermia; Primary amenorrhea; Sparse axillary hair; Sparse pubic hair; Testicular atrophy
FTL19q13.33100%gene with protein product134790Abnormality of metabolism/homeostasis; Anarthria; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Blepharospasm; Bradykinesia; Cataract; Cavitation of the basal ganglia; Chorea; Choreoathetosis; Congenital nuclear cataract; Decreased serum ferritin; Dementia; Disinhibition; Dysarthria; Dysphagia; Dysphonia; Dystonia; Emotional lability; Gait disturbance; Hyperreflexia; Hypomimic face; Increased serum ferritin; Laryngeal dystonia; Mutism; Neurodegeneration; Optic atrophy; Orofacial dyskinesia; Parkinsonism; Phenotypic variability; Progressive; Retinal degeneration; Rigidity; Spastic diplegia; Spasticity; Tremor
GATA618q11.2100%gene with protein product601656Abnormal nasal morphology; Abnormality of metabolism/homeostasis; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Broad forehead; Broad hallux; Clinodactyly of the 5th finger; Coarctation of aorta; Complete atrioventricular canal defect; Congenital diaphragmatic hernia; Cryptorchidism; Diabetes mellitus; Dolichocephaly; Double outlet right ventricle; Exocrine pancreatic insufficiency; Failure to thrive; Feeding difficulties; Global developmental delay; Glycosuria; Hyperglycemia; Intellectual disability; Intermittent diarrhea; Interrupted aortic arch; Intrauterine growth retardation; Muscular ventricular septal defect; Neonatal insulin-dependent diabetes mellitus; Pancreatic aplasia; Pancreatic hypoplasia; Patent ductus arteriosus; Patent foramen ovale; Perimembranous ventricular septal defect; Postaxial polydactyly; Preauricular pit; Proptosis; Pulmonary artery stenosis; Pulmonic stenosis; Secundum atrial septal defect; Small for gestational age; Tetralogy of Fallot; Thin vermilion border; Transposition of the great arteries; Truncus arteriosus; Underdeveloped supraorbital ridges; Ventricular septal defect
GBE13p12.299.98%gene with protein product607839Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of metabolism/homeostasis; Abnormality of the cerebral white matter; Adult onset; Arthrogryposis multiplex congenita; Ascites; Autosomal recessive inheritance; Behavioral abnormality; Cardiomyopathy; Cirrhosis; Cognitive impairment; Decreased fetal movement; Distal sensory impairment; Edema; Esophageal varix; Failure to thrive; Gait disturbance; Generalized hypotonia; Hemiparesis; Hepatic failure; Hepatosplenomegaly; Hydrops fetalis; Intellectual disability; Muscle weakness; Neurogenic bladder; Paresthesia; Peripheral axonal neuropathy; Polyhydramnios; Portal hypertension; Reduced tendon reflexes; Skeletal muscle atrophy; Skin ulcer; Slow progression; Spastic paraplegia; Spasticity; Tetraparesis; Tubulointerstitial fibrosis; Urinary bladder sphincter dysfunction; Urinary incontinenceRhabdomyolysis
GCLC6p12.199.93%gene with protein product606857GLCLC, GLCLAbnormality of metabolism/homeostasis; Anemia; Autosomal recessive inheritance; Hemolytic anemia; Late-onset spinocerebellar degeneration; Myopathy; PolyneuropathyHemolytic Anemia
GDF119p13.11100%gene with protein product602880Abnormal lung lobation; Abnormal nasal morphology; Abnormality of metabolism/homeostasis; Agenesis of corpus callosum; Anomalous pulmonary venous return; Asplenia; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Broad forehead; Broad hallux; Clinodactyly of the 5th finger; Coarctation of aorta; Common atrium; Complete atrioventricular canal defect; Cryptorchidism; Dolichocephaly; Double outlet right ventricle; Intrauterine growth retardation; Polysplenia; Postaxial polydactyly; Preauricular pit; Proptosis; Pulmonary artery atresia; Pulmonic stenosis; Right atrial isomerism; Situs inversus totalis; Tetralogy of Fallot; Thin vermilion border; Transposition of the great arteries; Truncus arteriosus; Underdeveloped supraorbital ridges; Ventricular septal defectHeterotaxy
GGT122q11.23100%gene with protein product612346GGTAbnormality of metabolism/homeostasis; Autosomal recessive inheritance; Intellectual disability
GH117q23.3100%gene with protein product139250Abnormality of metabolism/homeostasis; Abnormality of the face; Abnormality of the immune system; Autosomal dominant inheritance; Autosomal recessive inheritance; Delayed skeletal maturation; Growth hormone deficiency; Hypoglycemia; Pituitary dwarfism; Severe short stature; Short statureObesity
GHR5p13.1-p1299.58%gene with protein product600946Abnormal facial shape; Abnormal joint morphology; Abnormality of metabolism/homeostasis; Abnormality of the elbow; Aplasia/Hypoplasia involving the nose; Autosomal recessive inheritance; Brachydactyly; Decreased serum insulin-like growth factor 1; Delayed eruption of teeth; Delayed menarche; Delayed puberty; Delayed skeletal maturation; High forehead; High pitched voice; Hypoglycemia; Hypoplasia of penis; Hypoplastic nasal bridge; Microdontia; Micrognathia; Motor delay; Reduced number of teeth; Severe short stature; Short long bone; Short stature; Short toe; Small face; Truncal obesity; Underdeveloped supraorbital ridgesObesity
GLMN1p22.196.14%gene with protein product601749VMGLOMAbnormality of metabolism/homeostasis; Abnormality of the skin; Autosomal dominant inheritance
GNAI23p21.3199.93%gene with protein product139360GNAI2BAbnormality of metabolism/homeostasis; Autosomal dominant inheritance; Paroxysmal ventricular tachycardia; Sudden cardiac death
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
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
HBB11p15.499.99%gene with protein product141900Abdominal pain; Abnormal bone structure; Abnormal hemoglobin; Abnormality of metabolism/homeostasis; Abnormality of the dentition; Abnormality of the skeletal system; Abnormality of the spleen; Anemia; Anxiety; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Cardiomegaly; Chest pain; Cholelithiasis; Chronic hemolytic anemia; Delayed puberty; Depressed nasal bridge; Depressivity; Dyspnea; Feeding difficulties; Fever; Genu valgum; Heinz body anemia; Hematuria; Hemolytic anemia; Hepatomegaly; Hypersplenism; Hypochromic microcytic anemia; Hypoxemia; Immunodeficiency; Increased red cell sickling tendency; Increased serum ferritin; Iron deficiency anemia; Jaundice; Leukocytosis; Malabsorption; Malar prominence; Microcytic anemia; Muscle weakness; Nonspherocytic hemolytic anemia; Osteomyelitis; Osteoporosis; Pallor; Paresthesia; Persistence of hemoglobin F; Pigment gallstones; Priapism; Recurrent bacterial infections; Recurrent infections; Reduced alpha/beta synthesis ratio; Reduced beta/alpha synthesis ratio; Renal insufficiency; Reticulocytosis; Retinopathy; Splenomegaly; Stroke; Thrombocytosis; Upslanted palpebral fissureHemolytic Anemia
HCCSXp22.2100%gene with protein product300056MLSAbnormal cardiac septum morphology; Abnormal facial shape; Abnormal morphology of the nasolacrimal system; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the eyelashes; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Anteriorly placed anus; Arrhythmia; Asymmetric, linear skin defects; Atrial septal defect; Cataract; Chordee; Clitoral hypertrophy; Colpocephaly; Congenital diaphragmatic hernia; Dermal atrophy; Dilated cardiomyopathy; Erythema; Hearing impairment; Histiocytoid cardiomyopathy; Hydrocephalus; Hyperpigmentation of the skin; Hypertrophic cardiomyopathy; Hypopigmented skin patches; Hypoplasia of the uterus; Hypospadias; Iris coloboma; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Overriding aorta; Ovotestis; Pigmentary retinopathy; Retrognathia; Sclerocornea; Seizures; Severe short stature; Short stature; Ventricular septal defect; Vitritis; Wide nasal bridge; Wide nose; X-linked dominant inheritanceDisorders of Sex Development
HGD3q13.3399.98%gene with protein product607474AKUAbnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the nail; Abnormality of the nose; Abnormality of the urinary system; Abnormality of vision; Aminoaciduria; Aortic aneurysm; Aortic valve calcification; Arthralgia; Arthritis; Arthropathy; Autosomal recessive inheritance; Back pain; Blue sclerae; Calcification of cartilage; Cartilage destruction; Coronary artery calcification; Growth abnormality; Hearing abnormality; Intervertebral disc degeneration; Intervertebral disk calcification; Irregular hyperpigmentation; Joint dislocation; Joint stiffness; Joint swelling; Kyphosis; Mitral valve calcification; Nephrolithiasis; Osteoarthritis; Pigmentation of the sclera; Prostatitis; Tendon rupture; Thickened Achilles tendon; Vertebral fusionNephrotic Syndrome ; Palmoplantar keratoderma plus congenital ichthyosis
HR8p21.3100%gene with protein product602302ALUNCAbnormality of metabolism/homeostasis; Absent eyebrow; Absent eyelashes; Alopecia; Alopecia areata; Alopecia universalis; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Autosomal recessive inheritance; Coarse hair; Generalized papillary lesions; Hypotrichosis; Pili torti; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Sparse or absent eyelashes; Sparse scalp hairCongenital Kidney and Urinary Tract (CKUT) Anomalies; Disorders of Sex Development; Ectodermal Dysplasia ; Obesity
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
IFITM511p15.5100%gene with protein product614757Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Anterior radial head dislocation; Autosomal dominant inheritance; Biconcave vertebral bodies; Hyperplastic callus formation; Limited pronation/supination of forearm; Osteopenia; Platyspondyly; Recurrent fractures; Short stature; Triangular face; Vertebral wedging; Wormian bones
IGF112q23.286.91%gene with protein product147440Abnormal facial shape; Abnormality of metabolism/homeostasis; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Bilateral sensorineural hearing impairment; Clinodactyly; Clinodactyly of the 5th finger; Congenital onset; Congenital sensorineural hearing impairment; Decreased body weight; Delayed eruption of teeth; Delayed skeletal maturation; Failure to thrive; Hyperactivity; Hypogonadism; Insulin resistance; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Microcephaly; Micrognathia; Motor delay; Neonatal hyperbilirubinemia; Osteopenia; Osteoporosis; Prelingual sensorineural hearing impairment; Ptosis; Radial deviation of finger; Sensorineural hearing impairment; Severe intrauterine growth retardation; Severe postnatal growth retardation; Short attention span; Short stature; Small for gestational age; Small placentaObesity
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
KIF1A2q37.3100%gene with protein product601255ATSV, C2orf20, SPG30Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of eye movement; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of saccadic eye movements; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Abnormality of the palate; Abnormality of upper lip; Acral ulceration leading to autoamputation of digits; Anhidrosis; Ankle clonus; Anteverted nares; Areflexia; Ataxia; Atrophy/Degeneration affecting the brainstem; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Biparietal narrowing; Cerebellar atrophy; Cerebral cortical atrophy; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Distal amyotrophy; Distal sensory impairment; Drowsiness; Dysmetria; Dystrophic fingernails; Dystrophic toenail; Edema of the lower limbs; Epicanthus; Episodic hyperhidrosis; External ear malformation; Feeding difficulties; Feeding difficulties in infancy; Foot acroosteolysis; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hydrocephalus; Hyperhidrosis; Hyperlordosis; Hyperreflexia; Hyporeflexia; Hypsarrhythmia; Infantile onset; Infantile spasms; Intellectual disability, severe; Leg muscle stiffness; Limitation of joint mobility; Lower limb amyotrophy; Lower limb hyperreflexia; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Malar flattening; Microcephaly; Midface retrusion; Open mouth; Optic atrophy; Osteolytic defects of the phalanges of the hand; Painless fractures due to injury; Palpebral edema; Paronychia; Peripheral axonal neuropathy; Peripheral edema; Peripheral neuropathy; Porencephalic cyst; Progressive; Progressive spastic paraplegia; Recurrent respiratory infections; Reduced bone mineral density; Scissor gait; Sensorimotor neuropathy; Severe muscular hypotonia; Short nose; Skeletal muscle atrophy; Slow progression; Spastic gait; Spastic paraplegia; Tapered finger; Unsteady gait; Urinary bladder sphincter dysfunction; Variable expressivity; Ventriculomegaly; Visual loss; Wormian bones
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
KRT112q13.1399.88%gene with protein product139350EHK1Abnormal blistering of the skin; Abnormality of metabolism/homeostasis; Abnormality of the fingernails; Abnormality of the hair; Abnormality of the nail; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital bullous ichthyosiform erythroderma; Cutaneous photosensitivity; Diffuse palmoplantar keratoderma; Eczema; Epidermal acanthosis; Erythema; Erythroderma; Flexion contracture; Hyperhidrosis; Ichthyosis; Increased IgE level; Localized epidermolytic hyperkeratosis; Nail dystrophy; Nonepidermolytic palmoplantar keratoderma; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Poor appetite; Recurrent skin infections; Scaling skin; Verrucae; Weight lossEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
KRT412q13.13100%gene with protein product123940CYK4Abnormality of metabolism/homeostasis; Autosomal dominant inheritance; Oral leukoplakia
KRT8112q13.1379.71%gene with protein product602153KRTHB1Abnormal eyebrow morphology; Abnormality of metabolism/homeostasis; Abnormality of the eyelashes; Abnormality of the nail; Alopecia; Autosomal dominant inheritance; Brittle hair; Fine hair; Follicular hyperkeratosis; Heterogeneous; Hypotrichosis; Infantile onset; Nail dysplasia; Nail dystrophy; Patchy alopecia; Perifollicular hyperkeratosis; Slow-growing hair; Variable expressivity
KRT8312q13.13100%gene with protein product602765KRTHB3Abnormal eyebrow morphology; Abnormality of metabolism/homeostasis; Abnormality of the eyelashes; Abnormality of the nail; Alopecia; Autosomal dominant inheritance; Brittle hair; Erythema; Fine hair; Follicular hyperkeratosis; Heterogeneous; Hypotrichosis; Infantile onset; Nail dysplasia; Nail dystrophy; Palmoplantar keratoderma; Patchy alopecia; Perifollicular hyperkeratosis; Skin plaque; Slow-growing hair; Variable expressivity
KRT8612q1379.34%gene with protein product601928KRTHB6Abnormal eyebrow morphology; Abnormality of metabolism/homeostasis; Abnormality of the eyelashes; Abnormality of the nail; Alopecia; Autosomal dominant inheritance; Brittle hair; Fine hair; Follicular hyperkeratosis; Heterogeneous; Hypotrichosis; Infantile onset; Nail dysplasia; Nail dystrophy; Patchy alopecia; Perifollicular hyperkeratosis; Slow-growing hair; Variable expressivity
LHB19q13.3100%gene with protein product152780Abnormal spermatogenesis; Abnormality of metabolism/homeostasis; Abnormality of the Leydig cells; Androgen insufficiency; Autosomal recessive inheritance; Decreased circulating luteinizing hormone level; Decreased serum testosterone level; Gynecomastia; Hypogonadotrophic hypogonadism; Micropenis; Ovarian cyst; Secondary amenorrhea; Sparse axillary hair; Sparse pubic hair; Testicular microlithiasisDisorders of Sex Development
LMF116p13.3100%gene with protein product611761C16orf26, TMEM112Abnormality of metabolism/homeostasis; Acute pancreatitis; Autosomal recessive inheritance; Episodic abdominal pain; Eruptive xanthomas; Hepatic steatosis; Hepatosplenomegaly; Hypertriglyceridemia; Increased circulating chylomicron levels; Lipemia retinalis; Recurrent pancreatitisObesity
MANBA4q2499.94%gene with protein product609489Abnormal facial shape; Abnormality of metabolism/homeostasis; Aggressive behavior; Angiokeratoma; Autosomal recessive inheritance; Generalized hypotonia; Hearing impairment; Hyperactivity; Hypoplasia of the abdominal wall musculature; Increased urinary disaccharide excretion; Intellectual disability; Muscular hypotonia; Neurological speech impairment; Recurrent infections; Recurrent respiratory infections; Seizures; Tortuosity of conjunctival vessels
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
MINPP110q23.299.8%gene with protein product605391Abnormality of metabolism/homeostasis; Abnormality of neck blood vessel; Autosomal dominant inheritance; Chronic noninfectious lymphadenopathy; Follicular thyroid carcinoma; Neoplasm of head and neck; Nodular goiter; Non-medullary thyroid carcinoma
MPO17q22100%gene with protein product606989Abnormality of blood and blood-forming tissues; Abnormality of metabolism/homeostasis; Abnormality of the immune system; Autosomal recessive inheritance
MYH614q11.299.97%gene with protein product160710Abnormality of metabolism/homeostasis; Arrhythmia; Asymmetric septal hypertrophy; Autosomal dominant inheritance; Congestive heart failure; Dilated cardiomyopathy; Hypertrophic cardiomyopathy; Secundum atrial septal defect; Subvalvular aortic stenosis; Sudden death
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
MYLK220q11.21100%gene with protein product606566Abnormality of metabolism/homeostasis; Arrhythmia; Asymmetric septal hypertrophy; Autosomal dominant inheritance; Congestive heart failure; Subvalvular aortic stenosis; Sudden death
NHLRC16p22.3100%gene with protein product608072Abnormality of metabolism/homeostasis; Absence seizures; Apraxia; Autosomal recessive inheritance; Cutaneous photosensitivity; Dementia; Gait disturbance; Generalized myoclonic seizures; Generalized tonic-clonic seizures with focal onset; Hepatic failure; Heterogeneous; Myoclonus; Progressive neurologic deterioration; Psychosis; Rapidly progressive; Simple partial occipital seizures; Visual auras; Visual hallucinations; Visual loss
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
NKX2-68p21.2100%gene with protein product611770Abnormal nasal morphology; Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Brachydactyly; Broad forehead; Broad hallux; Clinodactyly of the 5th finger; Coarctation of aorta; Complete atrioventricular canal defect; Cryptorchidism; Dolichocephaly; Double outlet right ventricle; Intrauterine growth retardation; Postaxial polydactyly; Preauricular pit; Proptosis; Tetralogy of Fallot; Thin vermilion border; Transposition of the great arteries; Truncus arteriosus; Underdeveloped supraorbital ridges
NRAS1p13.299.99%gene with protein product164790Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of metabolism/homeostasis; Abnormality of the spleen; Abnormality of toe; Abnormality of vision; Adenoma sebaceum; Alopecia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Arrhythmia; Asymmetric growth; Asymmetry of the thorax; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Basal cell carcinoma; Biparietal narrowing; Broad forehead; Broad nasal tip; Cavernous hemangioma; Coarctation of aorta; Coarse hair; Coloboma; Congenital giant melanocytic nevus; Congenital onset; Cranial asymmetry; Cranial nerve paralysis; Cryptorchidism; Curly hair; Cutaneous melanoma; Cystic hygroma; Death in infancy; Decreased lymphocyte apoptosis; Deep philtrum; Delayed skeletal maturation; Downslanted palpebral fissures; Dysarthria; EEG abnormality; Enlarged thorax; Everted lower lip vermilion; Facial asymmetry; Feeding difficulties in infancy; Follicular hyperplasia; Follicular thyroid carcinoma; Frontal bossing; Full cheeks; Generalized hirsutism; Generalized hypotonia; Genu recurvatum; Hemangioma; Hemimegalencephaly; Hemolytic anemia; Hepatomegaly; Hereditary nonpolyposis colorectal carcinoma; High forehead; High palate; Horseshoe kidney; Hyperkeratosis; Hyperreflexia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Ichthyosis; Increased antibody level in blood; Intellectual disability; Iris coloboma; Irregular hyperpigmentation; Joint hyperflexibility; Kyphoscoliosis; Leukemia; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphoma; Lymphoproliferative disorder; Melanocytic nevus; Melanoma; Mental deterioration; Micrognathia; Microphthalmia; Midface retrusion; Monocytosis; Muscle weakness; Muscular hypotonia; Narrow nasal ridge; Neoplasm of the stomach; Neutropenia; Nevus sebaceous; Non-medullary thyroid carcinoma; Numerous congenital melanocytic nevi; Numerous nevi; Open mouth; Osteopenia; Overgrowth; Pancytopenia; Pectus carinatum; Pectus excavatum; Periorbital fullness; Plagiocephaly; Porencephalic cyst; Prominence of the premaxilla; Prominent forehead; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Recurrent fractures; Reduced tendon reflexes; Renal cell carcinoma; Round face; Scoliosis; Seizures; Short nose; Short stature; Somatic mosaicism; Splenomegaly; Sporadic; Strabismus; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Uterine leiomyosarcoma; Vertebral segmentation defect; Webbed neck; Wide intermamillary distance
OAT10q26.13100%gene with protein product613349Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Blindness; Chorioretinal atrophy; EMG abnormality; Myopia; Nyctalopia; Posterior subcapsular cataract; Proximal muscle weakness
OSTM16q2199.67%gene with protein product607649Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Decreased osteoclast count; Hydrocephalus; Osteopetrosis; Stillbirth
PEPD19q13.1199.96%gene with protein product613230Abnormal facial shape; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the hip bone; Abnormality of the middle ear; Anemia; Arachnodactyly; Asthma; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Carious teeth; Chronic lung disease; Convex nasal ridge; Crusting erythematous dermatitis; Cutaneous photosensitivity; Depressed nasal bridge; Depressed nasal ridge; Diffuse telangiectasia; Dry skin; Erythema; Generalized hirsutism; Genu valgum; Global developmental delay; Hearing impairment; Hepatomegaly; Hypertelorism; Low anterior hairline; Low posterior hairline; Micrognathia; Palmoplantar keratoderma; Papule; Petechiae; Prolonged neonatal jaundice; Prominent forehead; Proptosis; Pruritus; Ptosis; Recurrent pneumonia; Recurrent respiratory infections; Short nose; Skin ulcer; Splenomegaly; Systemic lupus erythematosus; Thin skin; Thrombocytopenia; Visual impairment; White forelock
PEX17q21.299.9%gene with protein product602136ZWS1, ZWSAbnormal chorioretinal morphology; Abnormal electroretinogram; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Adrenal hypoplasia; Albuminuria; Amelogenesis imperfecta; Aminoaciduria; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Areflexia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bell-shaped thorax; Bilateral single transverse palmar creases; Brachyturricephaly; Breech presentation; Brushfield spots; Cataract; Cirrhosis; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Convex nasal ridge; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Heterotopia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperoxaluria; Hyperreflexia; Hypertelorism; Hypogonadism; Hypoplasia of dental enamel; Hypoplastic olfactory lobes; Hyporeflexia; Hypospadias; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intrahepatic biliary dysgenesis; Jaundice; Large hands; Leukodystrophy; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Malabsorption; Malar flattening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic disc pallor; Patent ductus arteriosus; Pigmentary retinopathy; Pili torti; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Protruding tongue; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Reduced tendon reflexes; Redundant neck skin; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rocker bottom foot; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Subependymal cysts; Talipes equinovarus; Taurodontia; Thin eyebrow; Ulnar deviation of the hand; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge; Widely patent fontanelles and sutures
PEX101p36.32100%gene with protein product602859Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Cerebellar atrophy; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dysarthria; Dysmetric saccades; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Impaired smooth pursuit; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Pachygyria; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Slow progression; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Variable expressivity; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX11B1q21.1100%gene with protein product603867Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Congenital cataract; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dry skin; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydrocele testis; Hydronephrosis; Hyperreflexia; Hypospadias; Intellectual disability, mild; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Migraine; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Polyneuropathy; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive hearing impairment; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Urinary incontinence; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX1217q12100%gene with protein product601758Abnormal bleeding; Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormal facial shape; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Congenital onset; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Depressed nasal bridge; Depressed nasal ridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypocholesterolemia; Hyporeflexia; Hypospadias; Intellectual disability; Jaundice; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Malar flattening; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Osteoporosis; Polycystic kidney dysplasia; Polymicrogyria; Polyneuropathy; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Steatorrhea; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX132p15100%gene with protein product601789Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Apnea; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Clitoral hypertrophy; CNS hypomyelination; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated hepatic transaminases; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Jaundice; Large face; Lissencephaly; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Multiple renal cysts; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Respiratory tract infection; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Visual loss; Wide anterior fontanel; Wide nasal bridge
PEX141p36.22100%gene with protein product601791Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the eye; Abnormality of the liver; Abnormality of the nasal bridge; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Large fontanelles; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX1611p11.2100%gene with protein product603360Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Cerebellar vermis atrophy; Clitoral hypertrophy; Cognitive impairment; Constipation; Constriction of peripheral visual field; Corneal opacity; Corpus callosum atrophy; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dysarthria; Dysmetria; Dysphagia; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Glossoptosis; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spastic paraparesis; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX191q23.2100%gene with protein product600279PXFAbnormal chorioretinal morphology; Abnormal cortical bone morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the hairline; Abnormality of the liver; Abnormality of the male genitalia; Abnormality of the palate; Anteverted nares; Ataxia; Atrial septal defect; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Central hypotonia; Cerebral atrophy; Cholelithiasis; Clitoral hypertrophy; CNS demyelination; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cranial asymmetry; Cryptorchidism; Death in infancy; Decreased body weight; Decreased fetal movement; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Developmental regression; Dolichocephaly; Double outlet right ventricle; EEG abnormality; Elevated hepatic transaminases; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydrocephalus; Hydronephrosis; Hyperbilirubinemia; Hyperreflexia; Hypospadias; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Patent ductus arteriosus; Periorbital fullness; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Prominent nose; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal tubular dysfunction; Respiratory insufficiency; Rod-cone dystrophy; Scaphocephaly; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Triangular face; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX28q21.13100%gene with protein product170993PXMP3Abnormal chorioretinal morphology; Abnormal heart morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Brushfield spots; Camptodactyly; Cataract; Cerebellar atrophy; Cleft palate; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Difficulty running; Dolichocephaly; Dysarthria; Dysmetria; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; Hepatosplenomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hyporeflexia; Hypospadias; Intellectual disability; Intrahepatic biliary dysgenesis; Intrauterine growth retardation; Jaundice; Large fontanelles; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrogyria; Malabsorption; Metatarsus adductus; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Oculomotor apraxia; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Palpebral edema; Pigmentary retinopathy; Polymicrogyria; Poor suck; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Slow progression; Slow saccadic eye movements; Spasticity; Splenomegaly; Stippled chondral calcification; Strabismus; Talipes equinovarus; Tremor; Underdeveloped supraorbital ridges; Unsteady gait; Upslanted palpebral fissure; Variable expressivity; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX2622q11.21100%gene with protein product608666Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spasticity; Strabismus; Talipes equinovarus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX36q24.299.76%gene with protein product603164Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Broad forehead; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased fetal movement; Depressed nasal bridge; Developmental regression; Dolichocephaly; Downslanted palpebral fissures; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypospadias; Inverted nipples; Jaundice; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nephrocalcinosis; Neurogenic bladder; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Prominent nose; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spastic paraplegia; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX512p13.31100%gene with protein product600414PXR1Abnormal chorioretinal morphology; Abnormal facial shape; Abnormal heart morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the helix; Abnormality of the liver; Abnormality of the mitochondrion; Abnormality of the palate; Adrenal insufficiency; Aminoaciduria; Anteverted nares; Apnea; Areflexia; Asthma; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Broad-based gait; Brushfield spots; Camptodactyly; Cataract; Cleft palate; Clitoral hypertrophy; Cognitive impairment; Congenital cataract; Constriction of peripheral visual field; Corneal opacity; Coxa vara; Cryptorchidism; Cubitus valgus; Death in childhood; Death in infancy; Decreased body weight; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; Esotropia; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Frontal bossing; Generalized amyotrophy; Generalized hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypoplasia of the thymus; Hyporeflexia; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrahepatic biliary dysgenesis; Intrauterine growth retardation; Jaundice; Joint contracture of the hand; Large fontanelles; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Metaphyseal cupping; Metaphyseal irregularity; Metatarsus adductus; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Nyctalopia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Palpebral edema; Peripheral neuropathy; Pes cavus; Pigmentary retinopathy; Polar cataract; Polycystic kidney dysplasia; Polymicrogyria; Poor suck; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short femoral neck; Short stature; Single transverse palmar crease; Sinus tachycardia; Skeletal dysplasia; Spasticity; Stippled chondral calcification; Strabismus; Talipes equinovarus; Thoracic scoliosis; Turricephaly; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Vertical nystagmus; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX66p21.1100%gene with protein product601498Abnormal chorioretinal morphology; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased nerve conduction velocity; Dental crowding; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epicanthus inversus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypogonadism; Hypospadias; Intellectual disability; Jaundice; Large hands; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Pes planus; Pili torti; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cyst; Respiratory failure; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short nose; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Taurodontia; Thin eyebrow; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ureterocele; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX76q23.3100%gene with protein product601757Abnormal pyramidal signs; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Alopecia; Anosmia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Calcific stippling of infantile cartilaginous skeleton; Cardiomegaly; Cardiomyopathy; Cataract; Cerebral cortical atrophy; Cleft palate; Congenital cataract; Congestive heart failure; Coronal cleft vertebrae; Delayed CNS myelination; Depressed nasal bridge; Developmental regression; Dry skin; Elevated levels of phytanic acid; Epiphyseal stippling; Flared metaphysis; Flat face; Flexion contracture; Frontal bossing; Hammertoe; Hemiplegia/hemiparesis; Hyporeflexia; Ichthyosis; Increased CSF protein; Intellectual disability; Intellectual disability, severe; Kyphoscoliosis; Limb muscle weakness; Malar flattening; Microcephaly; Micrognathia; Miosis; Multiple epiphyseal dysplasia; Muscular hypotonia; Nail dysplasia; Nyctalopia; Nystagmus; Peripheral neuropathy; Pes cavus; Ptosis; Respiratory insufficiency; Retinal degeneration; Retinopathy; Rhizomelia; Rod-cone dystrophy; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory impairment; Severe failure to thrive; Severe short stature; Short fourth metatarsal; Short metacarpal; Skeletal dysplasia; Skeletal muscle atrophy; Spasticity; Splenomegaly; Upslanted palpebral fissure; Visual impairmentPalmoplantar keratoderma plus congenital ichthyosis
PEX76q23.3100%gene with protein product601757Abnormal pyramidal signs; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Alopecia; Anosmia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Calcific stippling of infantile cartilaginous skeleton; Cardiomegaly; Cardiomyopathy; Cataract; Cerebral cortical atrophy; Cleft palate; Congenital cataract; Congestive heart failure; Coronal cleft vertebrae; Delayed CNS myelination; Depressed nasal bridge; Developmental regression; Dry skin; Elevated levels of phytanic acid; Epiphyseal stippling; Flared metaphysis; Flat face; Flexion contracture; Frontal bossing; Hammertoe; Hemiplegia/hemiparesis; Hyporeflexia; Ichthyosis; Increased CSF protein; Intellectual disability; Intellectual disability, severe; Kyphoscoliosis; Limb muscle weakness; Malar flattening; Microcephaly; Micrognathia; Miosis; Multiple epiphyseal dysplasia; Muscular hypotonia; Nail dysplasia; Nyctalopia; Nystagmus; Peripheral neuropathy; Pes cavus; Ptosis; Respiratory insufficiency; Retinal degeneration; Retinopathy; Rhizomelia; Rod-cone dystrophy; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory impairment; Severe failure to thrive; Severe short stature; Short fourth metatarsal; Short metacarpal; Skeletal dysplasia; Skeletal muscle atrophy; Spasticity; Splenomegaly; Upslanted palpebral fissure; Visual impairmentPalmoplantar keratoderma plus congenital ichthyosis
PGR11q22.1100%gene with protein product607311Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Female infertilityHeterotaxy
PHYH10p1399.97%gene with protein product602026Abnormal pyramidal signs; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Anosmia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Cardiomegaly; Cardiomyopathy; Cataract; Congestive heart failure; Developmental regression; Dry skin; Elevated levels of phytanic acid; Hammertoe; Hemiplegia/hemiparesis; Hyporeflexia; Ichthyosis; Increased CSF protein; Intellectual disability, severe; Limb muscle weakness; Miosis; Multiple epiphyseal dysplasia; Muscular hypotonia; Nail dysplasia; Nyctalopia; Nystagmus; Peripheral neuropathy; Pes cavus; Ptosis; Retinal degeneration; Retinopathy; Rod-cone dystrophy; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory impairment; Short fourth metatarsal; Short metacarpal; Skeletal dysplasia; Skeletal muscle atrophy; Splenomegaly; Visual impairmentPalmoplantar keratoderma plus congenital ichthyosis
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
PLA2G622q13.1100%gene with protein product603604Abnormal pyramidal signs; Abnormality of metabolism/homeostasis; Abnormality of visual evoked potentials; Aggressive behavior; Ataxia; Autosomal recessive inheritance; Babinski sign; Bradykinesia; Cachexia; Cerebellar atrophy; Cerebral atrophy; Childhood onset; Chorea; Clumsiness; Delayed speech and language development; Depressivity; Developmental regression; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Elevated serum creatine phosphokinase; EMG: chronic denervation signs; Emotional lability; Feeding difficulties; Frontal bossing; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized hypotonia; Generalized muscle weakness; Gliosis; Global brain atrophy; Global developmental delay; Hearing impairment; Hyperactivity; Hyperreflexia; Impaired smooth pursuit; Impulsivity; Infantile onset; Intellectual disability; Intention tremor; Mental deterioration; Micrognathia; Morphological abnormality of the pyramidal tract; Muscular hypotonia; Neurodegeneration; Neurofibrillary tangles; Neuronal loss in central nervous system; Nystagmus; Optic atrophy; Parkinsonism; Personality changes; Phenotypic variability; Postural instability; Progressive; Prominent forehead; Rapidly progressive; Rigidity; Seizures; Short attention span; Short nose; Spastic tetraplegia; Spasticity; Strabismus; Supranuclear gaze palsy; Talipes calcaneovalgus; Tremor; Unsteady gait; Visual impairment; Visual loss
PLG6q26100%gene with protein product173350Abnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the larynx; Abnormality of the skin; Abnormality of vision; Autosomal recessive inheritance; Blindness; Cerebellar hypoplasia; Chronic irritative conjunctivitis; Conjunctivitis; Dandy-Walker malformation; Decreased level of plasminogen; Duodenal ulcer; Epiphora; Gastrointestinal inflammation; Gingival overgrowth; Gingivitis; Global developmental delay; Hydrocephalus; Infantile onset; Keratoconjunctivitis; Macrocephaly; Nephrolithiasis; Periodontitis; Poor wound healing; Premature loss of teeth; Recurrent bronchitis; Recurrent otitis media; Recurrent pharyngitis; Recurrent pneumonia; Recurrent upper respiratory tract infections; Stomatitis
PLOD11p36.2299.99%gene with protein product153454LLH, PLODAbnormality of metabolism/homeostasis; Abnormality of the hip bone; Aortic dissection; Arachnodactyly; Arterial dissection; Arterial rupture; Atypical scarring of skin; Autosomal recessive inheritance; Bladder diverticulum; Blindness; Blue sclerae; Bruising susceptibility; Congestive heart failure; Decreased fetal movement; Decreased pulmonary function; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Epicanthus; Gait disturbance; Gastrointestinal hemorrhage; Generalized hypotonia; Generalized joint laxity; Glaucoma; Hyperextensible skin; Inguinal hernia; Joint dislocation; Joint hyperflexibility; Joint laxity; Keratoconus; Kyphosis; Microcornea; Mitral valve prolapse; Molluscoid pseudotumors; Motor delay; Myopia; Neonatal hypotonia; Osteoporosis; Palmoplantar cutis laxa; Pes planus; Premature rupture of membranes; Progressive congenital scoliosis; Recurrent pneumonia; Respiratory insufficiency; Retinal detachment; Retinopathy; Scoliosis; Soft skin; Spontaneous rupture of the globe; Subcutaneous hemorrhage; Talipes equinovarus; Tall stature; Thin skin; Visual impairment
PLOD11p36.2299.99%gene with protein product153454LLH, PLODAbnormality of metabolism/homeostasis; Abnormality of the hip bone; Aortic dissection; Arachnodactyly; Arterial dissection; Arterial rupture; Atypical scarring of skin; Autosomal recessive inheritance; Bladder diverticulum; Blindness; Blue sclerae; Bruising susceptibility; Congestive heart failure; Decreased fetal movement; Decreased pulmonary function; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Epicanthus; Gait disturbance; Gastrointestinal hemorrhage; Generalized hypotonia; Generalized joint laxity; Glaucoma; Hyperextensible skin; Inguinal hernia; Joint dislocation; Joint hyperflexibility; Joint laxity; Keratoconus; Kyphosis; Microcornea; Mitral valve prolapse; Molluscoid pseudotumors; Motor delay; Myopia; Neonatal hypotonia; Osteoporosis; Palmoplantar cutis laxa; Pes planus; Premature rupture of membranes; Progressive congenital scoliosis; Recurrent pneumonia; Respiratory insufficiency; Retinal detachment; Retinopathy; Scoliosis; Soft skin; Spontaneous rupture of the globe; Subcutaneous hemorrhage; Talipes equinovarus; Tall stature; Thin skin; Visual impairment
PLPBP8p11.23100%gene with protein productformer name = PROSC604436PROSCAbnormality of metabolism/homeostasis; Abnormality of movement; Apnea; Autosomal recessive inheritance; Clonus; EEG abnormality; Global developmental delay; Hypertonia; Intellectual disability; Muscular hypotonia; Myoclonus; Neurological speech impairment; Poor speech; Postnatal microcephaly; Respiratory insufficiency; Status epilepticus; Ventriculomegaly
PNPLA619p13.299.99%gene with protein product603197Abnormal electroretinogram; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the antitragus; Abnormality of the hand; Abnormality of the hypothalamus-pituitary axis; Areflexia; Ataxia; Atrophy of the spinal cord; Autosomal recessive inheritance; Babinski sign; Central heterochromia; Cerebellar atrophy; Chorioretinal dystrophy; Cryptorchidism; Decreased fertility; Delayed puberty; Distal amyotrophy; Distal lower limb muscle weakness; Distal muscle weakness; Finger syndactyly; Gait disturbance; Growth hormone deficiency; Gynecomastia; Hand polydactyly; Hemiplegia/hemiparesis; Hyperreflexia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hyporeflexia; Intellectual disability; Intention tremor; Juvenile onset; Long eyebrows; Long eyelashes; Micropenis; Muscular hypotonia; Neurological speech impairment; Nystagmus; Obesity; Optic atrophy; Peripheral axonal neuropathy; Phenotypic variability; Photophobia; Pigmentary retinopathy; Progressive; Progressive spastic paraplegia; Progressive visual loss; Renal insufficiency; Retinal dystrophy; Scanning speech; Scrotal hypoplasia; Sensorineural hearing impairment; Severe short stature; Short stature; Small for gestational age; Spastic paraplegia; Spinocerebellar atrophyObesity
POLA1Xp22.11-p21.98.96%gene with protein product312040POLA, NSXAbnormality of chromosome stability; Abnormality of metabolism/homeostasis; Amyloidosis; Broad eyebrow; Colitis; Corneal scarring; Cryptorchidism; Diarrhea; Failure to thrive in infancy; Generalized reticulate brown pigmentation; Global developmental delay; Hearing impairment; Hemiplegia; Hyperkeratosis; Hypohidrosis; Hypospadias; Inguinal hernia; Intellectual disability; Leukemia; Neoplasm; Opacification of the corneal stroma; Photophobia; Recurrent infection of the gastrointestinal tract; Recurrent pneumonia; Seizures; Spasticity; Urethral stricture; Visual impairment; Visual loss; X-linked inheritance; X-linked recessive inheritance
POR7q11.23100%gene with protein product124015Abnormal renal morphology; Abnormal sex determination; Abnormalities of placenta or umbilical cord; Abnormality of abdomen morphology; Abnormality of metabolism/homeostasis; Abnormality of the endocrine system; Abnormality of the labia majora; Abnormality of the menstrual cycle; Abnormality of the pinna; Absence of secondary sex characteristics; Accelerated skeletal maturation; Adrenocorticotropic hormone excess; Adrenogenital syndrome; Ambiguous genitalia; Ambiguous genitalia, female; Ambiguous genitalia, male; Androgen insufficiency; Arachnodactyly; Arnold-Chiari malformation; Atrial septal defect; Autosomal recessive inheritance; Bifid scrotum; Brachycephaly; Bronchomalacia; Camptodactyly; Carpal synostosis; Choanal atresia; Choanal stenosis; Chordee; Clinodactyly; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital adrenal hyperplasia; Coronal craniosynostosis; Craniosynostosis; Cryptorchidism; Decreased circulating cortisol level; Decreased fertility in females; Decreased fertility in males; Decreased serum estradiol; Decreased serum testosterone level; Decreased testicular size; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Ectopic adrenal gland; Enlarged polycystic ovaries; Female external genitalia in individual with 46,XY karyotype; Female sexual dysfunction; Femoral bowing; Flexion contracture; Frontal bossing; Fused labia minora; Generalized hyperpigmentation; Hemivertebrae; Horseshoe kidney; Humeroradial synostosis; Hydrocephalus; Hyperpigmented genitalia; Hypertelorism; Hypoplasia of the vagina; Hypoplastic labia majora; Hypospadias; Increased circulating ACTH level; Increased serum testosterone level; Intellectual disability; Joint contracture of the hand; Labial hypoplasia; Lambdoidal craniosynostosis; Laryngomalacia; Long philtrum; Low maternal serum estriol; Low-set ears; Malar flattening; Male pseudohermaphroditism; Maternal virilization in pregnancy; Microcephaly; Micropenis; Midface retrusion; Narrow chest; Narrow pelvis bone; Oligohydramnios; Osteoporosis; Pear-shaped nose; Perineal hypospadias; Polycystic ovaries; Premature adrenarche; Proptosis; Radioulnar synostosis; Rocker bottom foot; Scoliosis; Scrotal hypoplasia; Short stature; Small for gestational age; Stenosis of the external auditory canal; Tall stature; Tarsal synostosis; Ulnar bowing; Upper airway obstruction; Urogenital sinus anomaly; Vaginal atresia; Vesicovaginal fistula; Wide anterior fontanelDisorders of Sex Development; Ectodermal Dysplasia
PPT11p34.2100%gene with protein product600722PPTAbnormality of metabolism/homeostasis; Ataxia; Autosomal recessive inheritance; Blindness; Cerebral atrophy; Decreased light- and dark-adapted electroretinogram amplitude; Depressivity; EEG abnormality; Flexion contracture; Generalized hypotonia; Global developmental delay; Hallucinations; Increased neuronal autofluorescent lipopigment; Intellectual disability; Irritability; Loss of speech; Macular degeneration; Myoclonus; Onset; Optic atrophy; Postnatal microcephaly; Progressive microcephaly; Progressive visual loss; Psychomotor deterioration; Seizures; Sleep disturbance; Spasticity; Undetectable electroretinogram
PRKN6q26100%gene with protein productFormer name = PARK2602544PARK2Abnormality of metabolism/homeostasis; Adult onset; Alveolar cell carcinoma; Autosomal dominant inheritance; Autosomal recessive inheritance; Bradykinesia; Breast carcinoma; Dysgerminoma; Dystonia; Gait disturbance; Hyperreflexia; Ovarian papillary adenocarcinoma; Parkinsonism; Postural instability; Rigidity; Substantia nigra gliosis; Tremor
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
RB113q14.296.48%gene with protein product614041OSRCAbnormal dermatoglyphics; Abnormal lactate dehydrogenase activity; Abnormality of cardiovascular system morphology; Abnormality of metabolism/homeostasis; Abnormality of the femoral metaphysis; Abnormality of the tibial metaphysis; Autosomal dominant inheritance; Brachydactyly; Cataract; Cleft palate; Clinodactyly of the 5th finger; Elevated alkaline phosphatase; Epicanthus; Finger syndactyly; Hypertelorism; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Joint swelling; Leukemia; Leukocoria; Low-set ears; Lymphoma; Microcephaly; Micrognathia; Microphthalmia; Muscular hypotonia; Neoplasm of the lung; Osteolysis; Osteosarcoma; Pain; Pinealoma; Prominent nasal bridge; Protruding ear; Ptosis; Retinal calcification; Retinoblastoma; Short neck; Short stature; Somatic mutation; Sporadic; Thickened helices; Transitional cell carcinoma of the bladder; Trigonocephaly; Vitreous hemorrhage; Wide nasal bridge
RETREG15p15.1100%gene with protein productformer name = FAM134B613114FAM134BAbnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Acral ulceration leading to autoamputation of digits; Anhidrosis; Areflexia; Autosomal recessive inheritance; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Dystrophic fingernails; Dystrophic toenail; Episodic hyperhidrosis; Feeding difficulties in infancy; Foot acroosteolysis; Gastroesophageal reflux; Generalized hypotonia; Hyperhidrosis; Hyperlordosis; Hyporeflexia; Infantile onset; Juvenile onset; Osteolytic defects of the phalanges of the hand; Osteomyelitis; Painless fractures due to injury; Paronychia; Peripheral axonal neuropathy; Peripheral neuropathy; Progressive; Reduced bone mineral density; Skeletal muscle atrophy; Slow progression; Spasticity; Tapered finger; Urinary incontinence; Wormian bones
RNF2167p22.199.75%gene with protein product609948Abnormal electroretinogram; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the hypothalamus-pituitary axis; Abnormality of the skeletal system; Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Chorioretinal dystrophy; Decreased fertility; Dementia; Dysarthria; Gynecomastia; Hemiplegia/hemiparesis; Hypogonadotrophic hypogonadism; Infertility; Muscular hypotonia; Neurological speech impairment; Nystagmus; Optic atrophy
RPGRXp11.499.06%gene with protein productDue to sequence complexity, sensitivity to variants in the ORF15 region may be limited.312610CRD, RP3, RP15, COD1Abnormal electroretinogram; Abnormality of color vision; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Atelectasis; Atypical scarring of skin; Blindness; Cataract; Chronic sinusitis; Conductive hearing impairment; Cone dysfunction syndrome; Cone/cone-rod dystrophy; Dyschromatopsia; Exotropia; Glaucoma; High-frequency hearing impairment; Hyperinsulinemia; Hypermetropia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Keratoconus; Macular degeneration; Macular scar; Myopia; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Otitis media; Pendular nystagmus; Photophobia; Progressive night blindness; Recurrent bronchitis; Recurrent Haemophilus influenzae infections; Recurrent respiratory infections; Reduced visual acuity; Rod-cone dystrophy; Sensorineural hearing impairment; Visual impairment; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritanceHeterotaxy
RPSA3p22.1100%gene with protein product150370LAMR1Abnormality of abdomen morphology; Abnormality of metabolism/homeostasis; Asplenia; Autosomal dominant inheritance; Autosomal recessive inheritance; Infantile onset
SCN9A2q24.399.99%gene with protein product603415Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Abnormality of the musculature; Absence seizures; Acral ulceration leading to autoamputation of digits; Anal pain; Anhidrosis; Anosmia; Areflexia; Ataxia; Atonic seizures; Autosomal dominant inheritance; Autosomal recessive inheritance; Blurred vision; Bradycardia; Constipation; Cutaneous photosensitivity; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Diarrhea; Dysautonomia; Dystrophic fingernails; Dystrophic toenail; EEG abnormality; Episodic hyperhidrosis; Erythema; Febrile seizures; Feeding difficulties in infancy; Focal clonic seizures; Focal seizures; Foot acroosteolysis; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Hyperhidrosis; Hyperlordosis; Hypohidrosis; Hyporeflexia; Hyposmia; Impaired pain sensation; Infantile onset; Jaw pain; Juvenile onset; Keratoconjunctivitis sicca; Lacrimation abnormality; Mandibular pain; Muscular hypotonia; Myalgia; Neonatal onset; Neurodevelopmental delay; Obtundation status; Ocular pain; Osteolytic defects of the phalanges of the hand; Pain insensitivity; Painless fractures due to injury; Palpitations; Paronychia; Peripheral neuropathy; Pruritus; Pschomotor retardation; Reduced bone mineral density; Seizures; Skeletal muscle atrophy; Slow progression; Tachycardia; Tapered finger; Tremor; Urinary incontinence; Variable expressivity; Wormian bones; Xerostomia
SERPINA614q32.13100%gene with protein product122500CBGAbnormality of metabolism/homeostasis; Autosomal dominant inheritance; Autosomal recessive inheritance; Hypertension; Hypotension; Increased muscle fatiguability; Phenotypic variability
SFTPB2p11.2100%gene with protein product178640SFTP3Abnormality of metabolism/homeostasis; Alveolar proteinosis; Apnea; Autosomal recessive inheritance; Clubbing; Cyanosis; Desquamative interstitial pneumonitis; Dyspnea; Failure to thrive; Heterogeneous; Infantile onset; Interstitial pulmonary abnormality; Pulmonary arterial hypertension; Rapidly progressive; Respiratory distress; Respiratory failure; Tachypnea
SI3q26.198.87%gene with protein product609845Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Diarrhea; Malabsorption; NephrolithiasisAutoimmune Disorders ; Congenital Kidney and Urinary Tract (CKUT) Anomalies; Inflammatory Bowel Disease ; Obesity; Rhabdomyolysis
SLC11A212q13.1299.99%gene with protein product600523NRAMP2Abnormality of metabolism/homeostasis; Abnormality of the liver; Anemia; Autosomal recessive inheritance; Decreased mean corpuscular volume
SLC13A517p13.199.96%gene with protein product608305Abnormality of metabolism/homeostasis; Abnormality of movement; Amelogenesis imperfecta; Ataxia; Autosomal recessive inheritance; Dementia; Developmental regression; EEG abnormality; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Hypodontia; Hypohidrosis; Intellectual disability; Intellectual disability, severe; Microcephaly; Multifocal seizures; Muscular hypotonia; Muscular hypotonia of the trunk; Neurological speech impairment; Seizures; Spasticity; Status epilepticus; Yellow-brown discoloration of the teeth
SLC17A56q1399.99%gene with protein product604322SIASDAbnormality of metabolism/homeostasis; Abnormality of the foot; Abnormality of the thorax; Anteverted nares; Ascites; Ataxia; Athetosis; Autosomal recessive inheritance; Cardiomegaly; Cerebral atrophy; Coarse facial features; Congestive heart failure; Conjugated hyperbilirubinemia; Death in childhood; Delayed speech and language development; Dysarthria; Epicanthus; Exotropia; Failure to thrive; Fair hair; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Growth delay; Hepatomegaly; High palate; Hydrocephalus; Hydrops fetalis; Hypopigmentation of the skin; Inability to walk; Intellectual disability; J-shaped sella turcica; Metaphyseal irregularity; Nephrotic syndrome; Nystagmus; Osteopenia; Premature birth; Ptosis; Seizures; Spasticity; Splenomegaly; Thickened calvaria; Vacuolated lymphocytes
SLC26A25q32100%gene with protein product606718DTDAbdominal distention; Abnormal enchondral ossification; Abnormal form of the vertebral bodies; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the clavicle; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the patella; Abnormality of the ribs; Absent or minimally ossified vertebral bodies; Anteverted nares; Aplasia/Hypoplasia of the lungs; Arthralgia; Autosomal recessive inheritance; Blue sclerae; Bowing of the long bones; Brachydactyly; Breech presentation; Camptodactyly of finger; Cervical kyphosis; Cleft palate; Clinodactyly of the 5th finger; Coronal cleft vertebrae; Costal cartilage calcification; Cystic lesions of the pinnae; Depressed nasal bridge; Disproportionate short stature; Disproportionate short-limb short stature; Dumbbell-shaped femur; Edema; Epiphyseal dysplasia; Femoral hernia; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Frontal bossing; Full cheeks; Glabellar hemangioma; Hearing impairment; Hip contracture; Hip dysplasia; Hitchhiker thumb; Hoarse voice; Horizontal sacrum; Hydrops fetalis; Hypertelorism; Hypertrophic auricular cartilage; Hypoplasia of the femoral head; Hypoplastic cervical vertebrae; Hypoplastic ilia; Increased bone mineral density; Inguinal hernia; Intrauterine growth retardation; Irregular epiphyses; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Laryngotracheal stenosis; Lethal skeletal dysplasia; Limited elbow flexion; Long philtrum; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Multiple epiphyseal dysplasia; Muscular hypotonia; Narrow chest; Neonatal short-limb short stature; Osteoarthritis; Overfolded helix; Platyspondyly; Polyhydramnios; Proximal placement of thumb; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Sandal gap; Scoliosis; Severe short stature; Short finger; Short foot; Short long bone; Short metacarpal; Short middle phalanx of finger; Short neck; Short nose; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Small hand; Spinal cord compression; Stillbirth; Symphalangism affecting the phalanges of the hand; Talipes equinovarus; Thickened nuchal skin fold; Thoracic hypoplasia; Ulnar deviation of finger; Umbilical herniaShort-Rib Thoracic Dysplasia
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
SLC35C111p11.2100%gene with protein product605881Abnormality of metabolism/homeostasis; Abnormality of the integument; Autosomal recessive inheritance; Bulbous nose; Cerebral cortical atrophy; Generalized hypotonia; Intellectual disability, progressive; Intellectual disability, severe; Microcephaly; Periodontitis; Pneumonia; Reduction of neutrophil motilityBone Marrow Failure Syndromes
SLC4A117q21.31100%gene with protein product109270EPB3, AE1, DI, WDAbnormality of metabolism/homeostasis; Anorexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Distal renal tubular acidosis; Elliptocytosis; Failure to thrive; Hemolytic anemia; Hepatosplenomegaly; Hyperbilirubinemia; Hyperchloremic metabolic acidosis; Hypocalcemia; Hypokalemia; Increased red cell osmotic fragility; Isothenuria; Jaundice; Lethargy; Metabolic acidosis; Nephrocalcinosis; Osteomalacia; Pallor; Pathologic fracture; Periodic hypokalemic paresis; Periodic paralysis; Postnatal growth retardation; Renal tubular acidosis; Reticulocytosis; Rickets; Short stature; Spherocytosis; Splenomegaly; StomatocytosisHemolytic Anemia
SLC4A1120p13100%gene with protein product610206CHED2, CDPD1Abnormality of metabolism/homeostasis; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital corneal dystrophy; Corneal dystrophy; Corneal opacity; Hemolytic anemia; Nystagmus; Opacification of the corneal stroma; Reticulocytosis; Sensorineural hearing impairment; Splenomegaly; Stomatocytosis; Visual impairment
SLC6A8Xq2899.65%gene with protein product300036Abnormality of creatine metabolism; Abnormality of metabolism/homeostasis; Aganglionic megacolon; Aggressive behavior; Ataxia; Athetosis; Attention deficit hyperactivity disorder; Autistic behavior; Broad forehead; Cachexia; Chorea; Constipation; Delayed myelination; Delayed speech and language development; Dystonia; Exotropia; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypermetropia; Hypertonia; Hypoplasia of the corpus callosum; Ileus; Impaired social interactions; Infantile onset; Intellectual disability; Joint hypermobility; Long face; Malar flattening; Mandibular prognathia; Microcephaly; Midface retrusion; Motor delay; Muscular hypotonia; Myopathic facies; Narrow face; Neonatal hypotonia; Open mouth; Pes cavus; Poor hand-eye coordination; Ptosis; Seizures; Self-mutilation; Short stature; Spasticity; Stereotypy; Tall stature; Underfolded superior helices; Vomiting; X-linked recessive inheritance
SPINT219q13.2100%gene with protein product605124Abdominal distention; Abnormality of metabolism/homeostasis; Autosomal recessive inheritance; Choanal atresia; Corneal erosion; Hypertelorism; Polyhydramnios; Secretory diarrheaInflammatory Bowel Disease
SRD5A22p23.1100%gene with protein product607306Abnormality of metabolism/homeostasis; Abnormality of the endocrine system; Abnormality of the hair; Abnormality of the voice; Ambiguous genitalia, male; Autosomal recessive inheritance; Bifid scrotum; Cryptorchidism; Decreased fertility; Hypoplasia of penis; Micropenis; Perineal hypospadias; Phenotypic variability; Scrotal hypoplasia; Urogenital sinus anomalyDisorders of Sex Development
STK1119p13.3100%gene with protein product602216Abdominal pain; Abnormal pigmentation of the oral mucosa; Abnormality of metabolism/homeostasis; Abnormality of the mouth; Abnormality of the ureter; Autosomal dominant inheritance; Biliary tract abnormality; Breast carcinoma; Clubbing of fingers; Cryptorchidism; Gastrointestinal carcinoma; Gastrointestinal hemorrhage; Gonadal dysgenesis; Gynecomastia; Hamartomatous polyposis; Hypermelanotic macule; Increased level of L-fucose in urine; Intestinal bleeding; Intussusception; Iron deficiency anemia; Multiple lentigines; Nasal polyposis; Neoplasm of the pancreas; Ovarian cyst; Precocious puberty with Sertoli cell tumor; Rectal prolapse; Somatic mutation; Sporadic; Teratoma
STSXp22.31100%gene with protein product300747ARSC1Abnormality of metabolism/homeostasis; Attention deficit hyperactivity disorder; Congenital ichthyosiform erythroderma; Corneal opacity; Cryptorchidism; Dry skin; Dysphasia; Global developmental delay; Hyperkeratosis; Hypohidrosis; Ichthyosis; Intellectual disability; Neoplasm; Opacification of the corneal stroma; X-linked recessive inheritancePalmoplantar keratoderma plus congenital ichthyosis
SYCP312q23.2100%gene with protein product604759Abnormality of metabolism/homeostasis; Autosomal dominant inheritance; Autosomal recessive inheritance; Azoospermia; Decreased testicular size; Increased circulating gonadotropin level; Non-obstructive azoospermia; Obstructive azoospermia; Recurrent spontaneous abortionMale Infertility
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
TEX11Xp1196.82%gene with protein product300311Abnormality of metabolism/homeostasis; Azoospermia; Decreased testicular size; Increased circulating gonadotropin level; Male infertility; Non-obstructive azoospermia; Obstructive azoospermia; X-linked recessive inheritanceMale Infertility
TINF214q12100%gene with protein product604319Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of metabolism/homeostasis; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Alopecia; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Ataxia; Autosomal dominant inheritance; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Cirrhosis; Cryptorchidism; Delayed speech and language development; Dermal atrophy; Dry skin; Epiphora; Esophageal stenosis; Excessive wrinkled skin; Exudative retinopathy; Failure to thrive; Fine hair; Fine, reticulate skin pigmentation; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Hearing impairment; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Intellectual disability; Interstitial pneumonitis; Intrauterine growth retardation; Leukocoria; Leukopenia; Lymphopenia; Malabsorption; Megalocornea; Microcephaly; Myelodysplasia; Nail dysplasia; Nail dystrophy; Nail pits; Nystagmus; Oral leukoplakia; Osteoporosis; Periodontitis; Phenotypic variability; Premature graying of hair; Premature loss of teeth; Progressive neurologic deterioration; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Reticular hyperpigmentation; Reticulated skin pigmentation; Retinopathy; Ridged fingernail; Ridged nail; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Specific learning disability; Sporadic; Squamous cell carcinoma of the skin; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes
TMC617q25.3100%gene with protein product605828EVER1Abnormality of metabolism/homeostasis; Basal cell carcinoma; Hypopigmented skin patches; Multiple cafe-au-lait spots; Papule; Pustule; Recurrent skin infections; Seborrheic dermatitis; Skin plaque; Verrucae
TMC817q25.3100%gene with protein product605829EVER2Abnormality of metabolism/homeostasis; Basal cell carcinoma; Hypopigmented skin patches; Multiple cafe-au-lait spots; Papule; Pustule; Recurrent skin infections; Seborrheic dermatitis; Skin plaque; Verrucae
TP5317p13.1100%gene with protein product191170Abdominal pain; Abnormal lactate dehydrogenase activity; Abnormal platelet morphology; Abnormal serum dehydroepiandrosterone level; Abnormality of metabolism/homeostasis; Abnormality of reproductive system physiology; Abnormality of the fallopian tube; Abnormality of the femoral metaphysis; Abnormality of the tibial metaphysis; Acute leukemia; Adrenocortical carcinoma; Adrenocorticotropic hormone deficiency; Amaurosis fugax; Anorexia; Anxiety; Arterial thrombosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Back pain; Breast carcinoma; Chest pain; Choroid plexus papilloma; Chronic fatigue; Colon cancer; Diabetes mellitus; Elevated alkaline phosphatase; Elevated serum 11-deoxycortisol; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Functional intestinal obstruction; Headache; Hepatocellular carcinoma; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; Hydrocephalus; Hyperaldosteronism; Hyperhidrosis; Hypertension; Hypertrichosis; Hypokalemia; Increased body weight; Increased level of L-fucose in urine; Increased megakaryocyte count; Increased serum androstenedione; Increased serum estradiol; Increased urinary cortisol level; Intestinal pseudo-obstruction; Irritability; Jaundice; Joint swelling; Lung adenocarcinoma; Lymphadenopathy; Lymphoma; Micronodular cirrhosis; Muscle weakness; Myocardial infarction; Nausea; Neoplasia of the nasopharynx; Neoplasm of the adrenal cortex; Neoplasm of the colon; Neoplasm of the nervous system; Neoplasm of the pancreas; Neoplasm of the skin; Neoplasm of the stomach; Nephroblastoma; Osteolysis; Osteosarcoma; Ovarian neoplasm; Pain; Palpitations; Pancreatic adenocarcinoma; Panic attack; Papilledema; Paradoxical increased cortisol secretion on dexamethasone suppression test; Paresthesia; Polygenic inheritance; Poor appetite; Primary peritoneal carcinoma; Progressive encephalopathy; Prolonged bleeding time; Prostate cancer; Prostate neoplasm; Renal cell carcinoma; Retinoblastoma; Seizures; Soft tissue sarcoma; Somatic mutation; Splenomegaly; Striae distensae; Subacute progressive viral hepatitis; Transient ischemic attack; Transitional cell carcinoma of the bladder; Uterine leiomyosarcoma; Venous thrombosis; Vomiting; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes
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
TSEN5417q25.1100%gene with protein product608755Abnormality of metabolism/homeostasis; Abnormality of the periventricular white matter; Autosomal recessive inheritance; Cerebellar hypoplasia; Congenital contracture; Congenital onset; Death in infancy; Extrapyramidal dyskinesia; Gliosis; Hypoplasia of the brainstem; Hypoplasia of the pons; Impaired smooth pursuit; Infantile encephalopathy; Loss of Purkinje cells in the cerebellar vermis; Microcephaly; Myoclonus; Olivopontocerebellar hypoplasia; Opisthotonus; Polyhydramnios; Poor suck; Progressive microcephaly; Restlessness; Seizures; Severe global developmental delay; Spasticity
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
TSPYL16q22.1100%gene with protein product604714TSPYLAbnormality of metabolism/homeostasis; Abnormality of the eye; Abnormality of the voice; Ambiguous genitalia; Ambiguous genitalia, male; Apnea; Autosomal recessive inheritance; Bradycardia; Bronchospasm; Cardiac arrest; Cardiorespiratory arrest; Cryptorchidism; Death in infancy; Dysautonomia; Dysplastic testes; Feeding difficulties in infancy; Gastroesophageal reflux; Growth delay; Hypoplasia of penis; Hyporeflexia; Hypothermia; Laryngospasm; Myoclonus; Ophthalmoplegia; Partial development of the penile shaft; Scrotal hypoplasia; Sleep apnea; Staccato cry; Stridor; Testicular dysgenesis; Tongue fasciculationsDisorders of Sex Development
TXNL4A18q23100%gene with protein product611595TXNL42-3 toe syndactyly; Abnormal cardiac septum morphology; Abnormality of metabolism/homeostasis; Atrial septal defect; Autosomal recessive inheritance; Bifid uvula; Bilateral choanal atresia; Bilateral choanal atresia/stenosis; Blepharophimosis; Choanal atresia; Cleft palate; Cleft upper lip; Conductive hearing impairment; Feeding difficulties in infancy; Hypertelorism; Hypomimic face; Lower eyelid coloboma; Mandibular prognathia; Micrognathia; Narrow mouth; Preauricular skin tag; Prominent nasal bridge; Protruding ear; Renal hypoplasia; Short palpebral fissure; Short philtrum; Thin vermilion border; Underdeveloped nasal alae; Ventricular septal defect
UBA1Xp11.3100%gene with protein product314370A1S9T, GXP1, UBE1Abnormality of metabolism/homeostasis; Adducted thumb; Areflexia; Arthrogryposis multiplex congenita; Bilateral single transverse palmar creases; Camptodactyly of finger; Cognitive impairment; Cryptorchidism; Decreased fetal movement; Degeneration of anterior horn cells; Dolichocephaly; Facial palsy; Failure to thrive in infancy; Flexion contracture; Gait disturbance; Hypospadias; Inguinal hernia; Joint stiffness; Kyphosis; Long philtrum; Micrognathia; Micropenis; Multiple joint contractures; Muscular hypotonia; Myopathic facies; Myopathy; Narrow chest; Proximal placement of thumb; Ptosis; Respiratory insufficiency due to muscle weakness; Scoliosis; Severe muscular hypotonia; Short neck; Short nose; Spinal muscular atrophy; Tongue fasciculations; Wide nasal bridge; X-linked recessive inheritance
VKORC116p11.257.58%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. 608547VKCFD2Abnormal bleeding; Abnormality of blood and blood-forming tissues; Abnormality of metabolism/homeostasis; Autosomal dominant inheritance; Autosomal recessive inheritance; Reduced factor IX activity; Reduced factor VII activity; Reduced factor X activity; Reduced prothrombin activity
VLDLR9p24.2100%gene with protein product192977Abnormality of metabolism/homeostasis; Ataxia; Autosomal recessive inheritance; Broad-based gait; Cataract; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral palsy; Congenital onset; Cortical gyral simplification; Delayed speech and language development; Dysarthria; Dysdiadochokinesis; Dysmetria; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Generalized hypotonia; Global developmental delay; Hyperreflexia; Hypoplasia of the brainstem; Intellectual disability; Intention tremor; Muscular hypotonia; Nonprogressive; Pachygyria; Pes planus; Poor speech; Seizures; Short stature; Skeletal muscle atrophy; Strabismus; Truncal ataxia
WNK112p13.33100%gene with protein product605232PRKWNK1, HSN2Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Acral ulceration leading to autoamputation of digits; Anhidrosis; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Dystrophic fingernails; Dystrophic toenail; Episodic hyperhidrosis; Feeding difficulties in infancy; Foot acroosteolysis; Gastroesophageal reflux; Generalized hypotonia; Hyperchloremia; Hyperchloremic metabolic acidosis; Hyperhidrosis; Hyperkalemia; Hyperlordosis; Hypertension; Hyporeflexia; Infantile onset; Metabolic acidosis; Osteolytic defects of the phalanges of the hand; Painless fractures due to injury; Paronychia; Peripheral neuropathy; Pseudohypoaldosteronism; Reduced bone mineral density; Skeletal muscle atrophy; Slow progression; Tapered finger; Wormian bones
ZEB22q22.3100%gene with protein product605802ZFHX1BAbdominal distention; Abnormality of metabolism/homeostasis; Abnormality of the abdominal wall; Abnormality of the rib cage; Absent speech; Atrial septal defect; Autosomal dominant inheritance; Broad eyebrow; Delayed eruption of teeth; Drooling; Generalized hypotonia; Happy demeanor; Hypoplasia of the corpus callosum; Intellectual disability, moderate; Motor delay; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pulmonary artery sling; Pulmonary artery stenosis; Pulmonic stenosis; Supernumerary nipple; Ventricular septal defect; Vomiting; Widely spaced teeth


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