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
Eczema

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
CASP82q33.1100%gene with protein product601763Asthma; Autosomal dominant inheritance; Autosomal recessive inheritance; Chronic diarrhea; Decreased T cell activation; Defective B cell activation; Eczema; Failure to thrive; Hepatocellular carcinoma; Heterogeneous; Lymphadenopathy; Micronodular cirrhosis; Pneumonia; Recurrent sinopulmonary infections; Short stature; Somatic mutation; Splenomegaly; Subacute progressive viral hepatitisAutoimmune Disorders
CD282q33.2100%gene with protein product186760Abnormal lymphocyte morphology; Alopecia; Cutaneous T-cell lymphoma; Dry skin; Eczema; Erythema; Erythroderma; Hepatomegaly; Hypopigmented skin patches; Immunodeficiency; Irregular hyperpigmentation; Lichenification; Lymphadenopathy; Nail dystrophy; Neoplasm of the skin; Palmoplantar keratoderma; Poikiloderma; Pruritus; Skin plaque; Skin rash; Splenomegaly
CD3G11q23.3100%gene with protein product186740Autosomal recessive inheritance; Decreased proportion of CD8-positive T cells; Eczema; Immunodeficiency; Recurrent otitis media; Recurrent respiratory infections; Variable expressivityInflammatory Bowel Disease
CSTA3q21.1100%gene with protein product184600STF1, STFAAbnormal blistering of the skin; Allergy; Autosomal recessive inheritance; Eczema; Erythema; High hypermetropia; Ichthyosis; Lichenification; Palmoplantar keratoderma; Scaling skinPalmoplantar keratoderma plus congenital ichthyosis
CTLA42q33.2100%gene with protein product123890CELIAC3, IDDM12Abdominal pain; Abnormal lymphocyte morphology; Abnormality of the hypothalamus-pituitary axis; Abnormality of the oral cavity; Alopecia; Arthralgia; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Cerebral ischemia; Chest pain; Chronic obstructive pulmonary disease; Cough; Cutaneous T-cell lymphoma; Decreased antibody level in blood; Diarrhea; Dry skin; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Epistaxis; Erythema; Erythroderma; Fatigue; Fever; Glomerulopathy; Granulomatosis; Hematuria; Hemoptysis; Hepatomegaly; Hypopigmented skin patches; Immunodeficiency; Incomplete penetrance; Inflammatory abnormality of the eye; Irregular hyperpigmentation; Lichenification; Lymphadenopathy; Nail dystrophy; Nausea and vomiting; Neoplasm of the skin; Palmoplantar keratoderma; Papule; Periorbital edema; Poikiloderma; Proteinuria; Pruritus; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent intrapulmonary hemorrhage; Recurrent respiratory infections; Respiratory insufficiency; Sinusitis; Skin plaque; Skin rash; Splenomegaly; Vasculitis; Weight lossAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
DHCR711q13.4100%gene with protein product602858SLOS2-3 toe syndactyly; Abnormal dermatoglyphics; Abnormal lung lobation; Abnormality of dental morphology; Abnormality of the larynx; Abnormality of the metacarpal bones; Aganglionic megacolon; Aggressive behavior; Ambiguous genitalia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Atrial septal defect; Atrioventricular canal defect; Attention deficit hyperactivity disorder; Autism; Autosomal recessive inheritance; Bicornuate uterus; Bifid scrotum; Biparietal narrowing; Breech presentation; Broad alveolar ridges; Cataract; Cholestatic liver disease; Cleft palate; Clitoral hypertrophy; Coarctation of aorta; Constipation; Cryptorchidism; Cutaneous photosensitivity; Cutis marmorata; Dandy-Walker malformation; Decreased fetal movement; Dental crowding; Depressed nasal bridge; Eczema; Elevated 7-dehydrocholesterol; Epicanthus; Epiphyseal stippling; Excessive daytime somnolence; Facial capillary hemangioma; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Gastrointestinal dysmotility; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hammertoe; Hearing impairment; Hip dislocation; Hip subluxation; Holoprosencephaly; Hydrocephalus; Hydronephrosis; Hyperactivity; Hypertelorism; Hypertonia; Hypocholesterolemia; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal lobes; Hypospadias; Increased nuchal translucency; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Metatarsus adductus; Microcephaly; Microglossia; Micrognathia; Micromelia; Micropenis; Muscular hypotonia; Narrow forehead; Nystagmus; Overlapping toe; Patent ductus arteriosus; Periventricular gray matter heterotopia; Polyhydramnios; Poor suck; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Precocious puberty; Premature birth; Proximal placement of thumb; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Recurrent infections; Recurrent otitis media; Renal agenesis; Renal cyst; Renal hypoplasia; Scrotal hypoplasia; Seizures; Self-injurious behavior; Self-mutilation; Septate vagina; Severe photosensitivity; Short neck; Short stature; Short thumb; Short toe; Sleep-wake cycle disturbance; Strabismus; Talipes calcaneovalgus; Tracheal stenosis; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Vomiting; Wide intermamillary distance; Wide mouth; Wide nasal bridgeDisorders of Sex Development
DNAJC215p13.299.87%gene with protein product617048Abnormality of skin pigmentation; Abnormality of the metaphysis; Anemia; Autosomal recessive inheritance; Bone marrow hypocellularity; Delayed skeletal maturation; Eczema; Exocrine pancreatic insufficiency; Failure to thrive; Generalized hypotonia; Global developmental delay; Hyperkeratosis; Ichthyosis; Intellectual disability; Intrauterine growth retardation; Malabsorption; Neutropenia; Osteopenia; Pancytopenia; Recurrent infections; Short stature; ThrombocytopeniaBone Marrow Failure Syndromes
DOCK89p24.3100%gene with protein product611432Asthma; Atopic dermatitis; Autosomal dominant inheritance; Autosomal recessive inheritance; B lymphocytopenia; Cerebral vasculitis; Chronic otitis media; Decrease in T cell count; Delayed speech and language development; Eczema; Eosinophilia; Global developmental delay; Hemiplegia; Increased IgE level; Infantile onset; Intellectual disability; Neoplasm; Onychomycosis; Pneumonia; Recurrent bacterial infections; Recurrent bacterial skin infections; Recurrent candida infections; Recurrent fungal infections; Recurrent sinopulmonary infections; Recurrent sinusitis; Recurrent viral infections; Severe viral infections; Skin ulcer; Subarachnoid hemorrhage; VerrucaeAutoimmune Disorders ; Ectodermal Dysplasia ; Inflammatory Bowel Disease
EDAXq13.199.08%gene with protein product300451ED1, EDA2, ODT1, EDA1Abnormality of oral mucosa; Absent eyebrow; Absent nipple; Anhidrosis; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Brittle hair; Concave nail; Conical tooth; Delayed eruption of teeth; Depressed nasal bridge; Depressed nasal ridge; Dry skin; Dysphonia; Eczema; Everted lower lip vermilion; Everted upper lip vermilion; Fever; Frontal bossing; Heat intolerance; Heterogeneous; Hoarse voice; Hypodontia; Hypohidrosis; Hypohidrotic ectodermal dysplasia; Hypoplasia of the maxilla; Hypoplastic nipples; Hypoplastic-absent sebaceous glands; Hypotrichosis; Microdontia; Micrognathia; Oligodontia; Periorbital hyperpigmentation; Periorbital wrinkles; Prominent supraorbital ridges; Respiratory distress; Short chin; Short nose; Soft skin; Sparse and thin eyebrow; Sparse body hair; Sparse eyelashes; Taurodontia; Thick vermilion border; Thin skin; Underdeveloped nasal alae; X-linked dominant inheritance; X-linked recessive inheritanceEctodermal Dysplasia
EFL115q25.2100%gene with protein productFormer name = ETUD1617538EFTUD1Abnormality of the metaphysis; Anemia; Delayed skeletal maturation; Eczema; Exocrine pancreatic insufficiency; Failure to thrive; Generalized hypotonia; Global developmental delay; Ichthyosis; Intellectual disability; Malabsorption; Neutropenia; Osteopenia; Recurrent infections; Short stature; Thrombocytopenia
FECH18q21.31100%gene with protein product612386Abnormality of the heme biosynthetic pathway; Autosomal dominant inheritance; Autosomal recessive inheritance; Childhood onset; Cholelithiasis; Cutaneous photosensitivity; Eczema; Edema; Erythema; Hemolytic anemia; Hepatic failure; Hypertriglyceridemia; Pruritus
FERMT120p12.399.78%gene with protein product607900C20orf42Abnormal blistering of the skin; Abnormal pigmentation of the oral mucosa; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of skin pigmentation; Abnormality of the preputium; Amniotic constriction ring; Ankyloglossia; Aplasia/Hypoplasia of the skin; Autosomal recessive inheritance; Camptodactyly of finger; Carious teeth; Cheilitis; Colitis; Corneal erosion; Cutaneous photosensitivity; Dermal atrophy; Diffuse skin atrophy; Dysphagia; Dystrophic fingernails; Dystrophic toenail; Eczema; Erythema; Esophageal stricture; Esophagitis; Finger syndactyly; Fragile skin; Gingival bleeding; Gingivitis; Hypopigmented skin patches; Ichthyosis; Irregular hyperpigmentation; Narrow mouth; Oral leukoplakia; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papule; Periodontitis; Phimosis; Poikiloderma; Premature loss of primary teeth; Pustule; Recurrent skin infections; Ridged nail; Skin ulcer; Spotty hyperpigmentation; Spotty hypopigmentation; Symblepharon; Telangiectases in sun-exposed and nonexposed skin; Telangiectasia of the skin; Thin skin; Turricephaly; Urticaria; XerostomiaPalmoplantar keratoderma plus congenital ichthyosis
FOXP3Xp11.23100%gene with protein product300292IPEXAutoimmune hemolytic anemia; Diarrhea; Eczema; Eosinophilia; Hypothyroidism; Ileus; Immune dysregulation; Lymphadenopathy; Thrombocytopenia; Type I diabetes mellitus; Variable expressivity; Villous atrophy; X-linked recessive inheritanceAutoimmune Disorders ; Inflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency
HDAC42q37.399.98%gene with protein product605314BDMRAnteverted nares; Bilateral single transverse palmar creases; Brachydactyly; Broad columella; Clinodactyly of the 5th finger; Deeply set eye; Depressed nasal bridge; Downturned corners of mouth; Eczema; Finger syndactyly; Frontal bossing; Global developmental delay; Highly arched eyebrow; Intellectual disability; Joint hyperflexibility; Microcephaly; Midface retrusion; Muscular hypotonia; Obesity; Round face; Seizures; Short foot; Short metacarpal; Short palm; Short stature; Small hand; Sparse and thin eyebrow; Sparse scalp hair; Supernumerary nipple; Thin vermilion border; Toe syndactyly; Umbilical hernia; Underdeveloped nasal alae; Upslanted palpebral fissure; Wide intermamillary distance
HLA-DQB16p21.3290.9%gene with protein productXomeDxSlice is not appropriate.604305HLA-DQBAbnormal blistering of the skin; Abnormal rapid eye movement sleep; Abnormality of vision; Achalasia; Autoimmunity; Cataplexy; Diabetes mellitus; Eczema; Erythema; Excessive daytime sleepiness; Excessive daytime somnolence; Hallucinations; Insomnia; Macule; Psoriasiform dermatitis; Recurrent infections; Transient global amnesia; Urticaria; Weight loss
HLA-DRB16p21.3297.56%gene with protein productXomeDxSlice is not appropriate.142857HLA-DR1BAbnormal blistering of the skin; Abnormal rapid eye movement sleep; Abnormality of vision; Arthralgia; Arthritis; Autoimmunity; Carious teeth; Cataplexy; Chest pain; Cough; Diabetes mellitus; Dyspareunia; Dysphagia; Dyspnea; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Erythema; Erythema nodosum; Excessive daytime sleepiness; Excessive daytime somnolence; Fatigue; Fever; Flexion contracture; Gastroesophageal reflux; Hallucinations; Hypopigmented skin patches; Increase in T cell count; Insomnia; Joint swelling; Juvenile rheumatoid arthritis; Leukopenia; Lymphadenopathy; Lymphoma; Macule; Malabsorption; Mediastinal lymphadenopathy; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Night sweats; Oliguria; Osteolysis; Psoriasiform dermatitis; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent infections; Skin rash; Skin ulcer; Splenomegaly; Telangiectasia of the skin; Thrombocytopenia; Transient global amnesia; Urticaria; Uveitis; Weight loss; Xerostomia
IL2RA10p15.1100%gene with protein product147730IL2R, IDDM10Alopecia; Antinuclear antibody positivity; Apraxia; Arthralgia; Autoimmune hemolytic anemia; Autosomal recessive inheritance; Chronic diarrhea; Decrease in T cell count; Dental malocclusion; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Hepatomegaly; Hepatosplenomegaly; IgA deficiency; Immunodeficiency; Iridocyclitis; Joint dislocation; Joint swelling; Juvenile rheumatoid arthritis; Limitation of joint mobility; Lymphadenopathy; Polyarticular arthritis; Recurrent bacterial infections; Recurrent fungal infections; Recurrent respiratory infections; Recurrent viral infections; Splenomegaly; Villous atrophyAutoimmune Disorders ; Inflammatory Bowel Disease
IL7R5p13.2100%gene with protein product146661Abnormal lymphocyte morphology; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Chronic diarrhea; Decrease in T cell count; Desquamation of skin soon after birth; Diarrhea; Dry skin; Eczema; Edema; Eosinophilia; Erythroderma; Failure to thrive; Failure to thrive secondary to recurrent infections; Fever; Hepatomegaly; Lymphadenopathy; Oral ulcer; Otitis media; Pneumonia; Pruritus; Recurrent opportunistic infections; Severe combined immunodeficiency; Splenomegaly; Thickened skinPrimary Immunodeficiency
KANSL117q21.31100%gene with protein product612452KIAA1267Abnormality of hair pigmentation; Abnormality of hair texture; Abnormality of the dentition; Anteverted ears; Atrial septal defect; Autosomal dominant inheritance; Bicuspid aortic valve; Blepharophimosis; Broad forehead; Bulbous nose; Cleft upper lip; Conspicuously happy disposition; Contiguous gene syndrome; Delayed speech and language development; Dry skin; Eczema; Epicanthus; Everted lower lip vermilion; Failure to thrive; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; High forehead; High palate; Hip dislocation; Hip dysplasia; Hydronephrosis; Hypermetropia; Hypotrophy of the small hand muscles; Intellectual disability; Intrauterine growth retardation; Joint hypermobility; Kyphosis; Macrotia; Narrow palate; Narrow palm; Nasal speech; Open mouth; Overfolded helix; Pear-shaped nose; Poor speech; Positional foot deformity; Prominent fingertip pads; Prominent nasal bridge; Ptosis; Pulmonic stenosis; Sacral dimple; Scoliosis; Slender finger; Sporadic; Strabismus; Upslanted palpebral fissure; Variable expressivity; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Widely spaced teeth
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
KRT1617q21.2100%gene with protein product148067Abnormal blistering of the skin; Abnormality of nail color; Abnormality of the fingernails; Autosomal dominant inheritance; Carious teeth; Eczema; Epidermoid cyst; Erythema; Follicular hyperkeratosis; Heterogeneous; Hyperhidrosis; Ichthyosis; Localized epidermolytic hyperkeratosis; Nail dystrophy; Oral leukoplakia; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Skin plaque; Thick nail; VerrucaeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
KRT917q21.289.8%gene with protein product607606Abnormality of the fingernails; Autosomal dominant inheritance; Eczema; Erythema; Hyperhidrosis; Increased IgE level; Localized epidermolytic hyperkeratosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; VerrucaeEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
LIG413q33.399.99%gene with protein product601837Abnormal lymphocyte morphology; Abnormality of chromosome stability; Abnormality of female external genitalia; Abnormality of the antihelix; Acute leukemia; Alopecia; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thumb; Attention deficit hyperactivity disorder; Biparietal narrowing; Bird-like facies; Blepharophimosis; Brachycephaly; Broad thumb; Chronic diarrhea; Clinodactyly of the 5th finger; Cryptorchidism; Cutaneous photosensitivity; Delayed cranial suture closure; Delayed skeletal maturation; Depressed nasal bridge; Desquamation of skin soon after birth; Dry skin; Eczema; Edema; Eosinophilia; Epicanthus; Erythema; Erythroderma; Failure to thrive; Fever; Fine hair; Global developmental delay; Growth delay; Hearing impairment; Hepatomegaly; Hypertelorism; Hypospadias; Intellectual disability; Intrauterine growth retardation; Large beaked nose; Low anterior hairline; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphoma; Microcephaly; Micrognathia; Narrow face; Pancytopenia; Pneumonia; Postnatal growth retardation; Protruding ear; Pruritus; Ptosis; Recurrent infections; Respiratory insufficiency; Sandal gap; Severe combined immunodeficiency; Short foot; Short stature; Sloping forehead; Small hand; Sparse lateral eyebrow; Sparse scalp hair; Splenomegaly; Submucous cleft hard palate; Telecanthus; Thickened skin; Thin vermilion border; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Wide anterior fontanel; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease ; Primary Immunodeficiency
MBTPS2Xp22.12100%gene with protein product300294KFSDAbnormal morphology of the nasolacrimal system; Abnormal vertebral morphology; Abnormality of the eyelashes; Abnormality of the fingernails; Abnormality of the ribs; Absent eyebrow; Absent eyelashes; Aganglionic megacolon; Alopecia; Alopecia totalis; Anhidrosis; Ankylosis; Blepharitis; Brain atrophy; Carious teeth; Cleft palate; Congenital onset; Conjunctivitis; Convex nasal ridge; Corneal dystrophy; Corneal erosion; Cryptorchidism; Decreased testicular size; Dementia; Developmental regression; Dry skin; Dystrophic fingernails; Ectodermal dysplasia; Ectropion; Eczema; Epidermal acanthosis; Erythema; Erythroderma; Facial erythema; Failure to thrive; Feeding difficulties; Follicular hyperkeratosis; Folliculitis; Global developmental delay; Hearing impairment; Heat intolerance; Hemivertebrae; Heterogeneous; Hydrocephalus; Hyperconvex fingernails; Hyperkeratosis; Hypodontia; Hypohidrosis; Hypoplasia of the bladder; Hypoplasia of the corpus callosum; Hypoplastic fingernail; Hypotrichosis; Ichthyosis; Immunodeficiency; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Iris coloboma; Keratitis; Low-set ears; Microcephaly; Microphthalmia; Multicystic kidney dysplasia; Nail dysplasia; Nail dystrophy; Neonatal death; Oligohydramnios; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic nerve hypoplasia; Palmoplantar hyperhidrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papule; Parakeratosis; Perifollicular fibrosis; Photophobia; Plagiocephaly; Postaxial hand polydactyly; Protruding ear; Recurrent bacterial infections; Recurrent corneal erosions; Recurrent respiratory infections; Renal dysplasia; Renal hypoplasia; Scaling skin; Scarring alopecia of scalp; Scoliosis; Seizures; Sensorineural hearing impairment; Short stature; Skin fissure; Skin ulcer; Sparse and thin eyebrow; Sparse eyelashes; Specific learning disability; Subungual hyperkeratosis; Thin eyebrow; Thin fingernail; Umbilical hernia; Unilateral chest hypoplasia; Unilateral renal agenesis; Variable expressivity; Ventriculomegaly; Vesicoureteral reflux; X-linked recessive inheritanceEctodermal Dysplasia ; Palmoplantar keratoderma plus congenital ichthyosis
MSNXq12100%gene with protein product309845Decreased antibody level in blood; Eczema; Lymphopenia; Recurrent respiratory infections; Recurrent urinary tract infections; X-linked recessive inheritance
NOD216q12.1100%gene with protein product605956IBD1, CARD15Abnormality of the cranial nerves; Abnormality of the ear; Arthralgia; Arthritis; Autosomal dominant inheritance; Band keratopathy; Camptodactyly of finger; Cataract; Cystoid macular edema; Dry skin; Eczema; Erythema; Erythema nodosum; Fever; Flexion contracture of toe; Glaucoma; Hyperpigmentation of the skin; Intermittent generalized erythematous papular rash; Iridocyclitis; Iritis; Joint swelling; Keratitis; Limitation of joint mobility; Nongranulomatous uveitis; Papule; Photophobia; Polyarticular arthritis; Posterior uveitis; Skin rash; Skin ulcer; Synovitis; Tendonitis; UveitisInflammatory Bowel Disease ; Primary Immunodeficiency
NSMCE315q13.1100%gene with protein product608243NDNL2Abnormality of the thymus; Autosomal recessive inheritance; Bronchiolitis obliterans; Eczema; Emphysema; Failure to thrive; Feeding difficulties; Mild global developmental delay; Muscular hypotonia of the trunk; Wide anterior fontanel
NSUN25p15.31100%gene with protein product610916MRT5Abnormality of female external genitalia; Abnormality of the antihelix; Aplasia/Hypoplasia of the thumb; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Blepharophimosis; Broad thumb; Clinodactyly of the 5th finger; Cryptorchidism; Delayed cranial suture closure; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Dysarthria; Eczema; Epicanthus; Fine hair; Global developmental delay; Hearing impairment; Hyperreflexia; Hypertelorism; Hypospadias; Hypotelorism; Intellectual disability; Intrauterine growth retardation; Long face; Low anterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Muscular hypotonia of the trunk; Narrow face; Postnatal growth retardation; Prominent nose; Protruding ear; Ptosis; Recurrent infections; Respiratory insufficiency; Sandal gap; Short chin; Short foot; Short philtrum; Short stature; Sloping forehead; Small for gestational age; Small hand; Smooth philtrum; Sparse lateral eyebrow; Sparse scalp hair; Spasticity; Strabismus; Submucous cleft hard palate; Synophrys; Telecanthus; Thick eyebrow; Thick upper lip vermilion; Underdeveloped nasal alae; Underdeveloped supraorbital ridges; Wide anterior fontanel
PAH12q23.2100%gene with protein product612349Aggressive behavior; Anxiety; Attention deficit hyperactivity disorder; Autism; Autosomal recessive inheritance; Blue irides; Cataract; Cerebral calcification; Depressivity; Dry skin; Eczema; Fair hair; Generalized hypopigmentation; Global developmental delay; Growth delay; Hyperphenylalaninemia; Hyperreflexia; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Increased level of hippuric acid in urine; Intellectual disability; Intellectual disability, severe; Irritability; Maternal hyperphenylalaninemia; Memory impairment; Microcephaly; Nausea and vomiting; Obsessive-compulsive behavior; Phenylpyruvic acidemia; Psychosis; Reduced phenylalanine hydroxylase activity; Scleroderma; Seizures; Self-mutilation; Tremor
PAH12q23.2100%gene with protein product612349Aggressive behavior; Anxiety; Attention deficit hyperactivity disorder; Autism; Autosomal recessive inheritance; Blue irides; Cataract; Cerebral calcification; Depressivity; Dry skin; Eczema; Fair hair; Generalized hypopigmentation; Global developmental delay; Growth delay; Hyperphenylalaninemia; Hyperreflexia; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Increased level of hippuric acid in urine; Intellectual disability; Intellectual disability, severe; Irritability; Maternal hyperphenylalaninemia; Memory impairment; Microcephaly; Nausea and vomiting; Obsessive-compulsive behavior; Phenylpyruvic acidemia; Psychosis; Reduced phenylalanine hydroxylase activity; Scleroderma; Seizures; Self-mutilation; Tremor
PCCA13q32.399.97%gene with protein product232000Abnormality of immune system physiology; Acute encephalopathy; Anemia; Apnea; Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Coma; Constipation; Dehydration; Dystonia; Eczema; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Hyperglycinuria; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Lactic acidosis; Lethargy; Limb hypertonia; Metabolic acidosis; Muscular hypotonia of the trunk; Neutropenia; Organic aciduria; Osteoporosis; Pancreatitis; Pancytopenia; Poor appetite; Propionyl-CoA carboxylase deficiency; Seizures; Short stature; Tachypnea; Thrombocytopenia; Vomiting
PCCB3q22.3100%gene with protein product232050Abnormality of immune system physiology; Acute encephalopathy; Anemia; Apnea; Arrhythmia; Autosomal recessive inheritance; Cardiomyopathy; Cerebral atrophy; Coma; Constipation; Dehydration; Dystonia; Eczema; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hepatomegaly; Hyperammonemia; Hyperglycinemia; Hyperglycinuria; Hypoglycemia; Increased level of hippuric acid in urine; Intellectual disability; Lactic acidosis; Lethargy; Limb hypertonia; Metabolic acidosis; Muscular hypotonia of the trunk; Neutropenia; Organic aciduria; Osteoporosis; Pancreatitis; Pancytopenia; Poor appetite; Propionyl-CoA carboxylase deficiency; Seizures; Short stature; Tachypnea; Thrombocytopenia; Vomiting
PGM36q14.1100%gene with protein product172100Allergic rhinitis; Asthma; Ataxia; Autosomal recessive inheritance; Bronchiectasis; Cognitive impairment; Conductive hearing impairment; Cortical myoclonus; Dysarthria; Eczema; Generalized hypotonia; Global developmental delay; High palate; Immunodeficiency; Intellectual disability; Lymphopenia; Neutropenia; Recurrent respiratory infections; Scoliosis; Sensorineural hearing impairment; Sensory impairment; Vasculitis in the skinBone Marrow Failure Syndromes
PTPRC1q31.3-q32.198.8%gene with protein product151460CD45Autosomal recessive inheritance; Decrease in T cell count; Diarrhea; Eczema; Failure to thrive secondary to recurrent infections; Hepatomegaly; Lymphadenopathy; Oral ulcer; Otitis media; Recurrent opportunistic infections; Severe combined immunodeficiency; SplenomegalyAutoimmune Disorders ; Primary Immunodeficiency
SBDS7q11.21100%gene with protein product607444Abnormality of the metaphysis; Acute myeloid leukemia; Anemia; Autosomal recessive inheritance; Coxa vara; Delayed skeletal maturation; Eczema; Elevated hepatic transaminases; Enlargement of the costochondral junction; Exocrine pancreatic insufficiency; Failure to thrive; Generalized hypotonia; Global developmental delay; Hepatomegaly; Ichthyosis; Intellectual disability; Intellectual disability, mild; Irregular ossification at anterior rib ends; Malabsorption; Metaphyseal chondrodysplasia; Metaphyseal sclerosis; Metaphyseal widening; Myelodysplasia; Myocardial necrosis; Narrow chest; Narrow sacroiliac notch; Neonatal respiratory distress; Nephrocalcinosis; Neutropenia; Osteopenia; Ovoid vertebral bodies; Pancytopenia; Persistence of hemoglobin F; Proximal femoral epiphysiolysis; Recurrent infections; Short stature; Small for gestational age; Specific learning disability; Steatorrhea; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
SLC30A21p36.11100%gene with protein product609617ZNT2Abnormal intestine morphology; Abnormality of zinc homeostasis; Autosomal dominant inheritance; Autosomal recessive inheritance; Eczema
SMARCA29p24.398.93%gene with protein product600014SNF2L2Abnormal hair pattern; Abnormality of the metacarpal bones; Absence seizures; Absent eyebrow; Absent speech; Aggressive behavior; Alopecia; Anteverted nares; Aphasia; Autosomal dominant inheritance; Blepharophimosis; Brachydactyly; Broad distal phalanx of finger; Broad philtrum; Clubbing of toes; Cryptorchidism; Curly eyelashes; Dysphasia; Echolalia; Eczema; Epileptic spasms; Everted lower lip vermilion; Excessive wrinkled skin; Failure to thrive; Global developmental delay; High, narrow palate; Highly arched eyebrow; Hypotrichosis; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint dislocation; Long eyelashes; Long philtrum; Low anterior hairline; Microcephaly; Mutism; Narrow nasal bridge; Poor speech; Prominent interphalangeal joints; Sandal gap; Scoliosis; Seizures; Severe short stature; Short metacarpal; Short metatarsal; Short palm; Short palpebral fissure; Short phalanx of finger; Smooth philtrum; Sparse scalp hair; Specific learning disability; Status epilepticus; Thick lower lip vermilion; Thick nasal alae; Thin vermilion border; Triangular face; Wide intermamillary distance; Wide mouth; Wide nasal base
SPINK55q32100%gene with protein product605010Abnormality of the musculature; Acanthosis nigricans; Allergic rhinitis; Angioedema; Asthma; Autosomal dominant inheritance; Autosomal recessive inheritance; Brittle hair; Congenital nonbullous ichthyosiform erythroderma; Decreased antibody level in blood; Eczema; Emphysema; Erythroderma; Failure to thrive; Fine hair; Global developmental delay; Hypernatremic dehydration; Increased IgE level; Intellectual disability; Irregular hyperpigmentation; Malabsorption; Recurrent infections; Recurrent respiratory infections; Seizures; Sparse and thin eyebrow; Sparse scalp hair; Trichorrhexis nodosa; Urticaria; Villous atrophyPalmoplantar keratoderma plus congenital ichthyosis
SPINK55q32100%gene with protein product605010Abnormality of the musculature; Acanthosis nigricans; Allergic rhinitis; Angioedema; Asthma; Autosomal dominant inheritance; Autosomal recessive inheritance; Brittle hair; Congenital nonbullous ichthyosiform erythroderma; Decreased antibody level in blood; Eczema; Emphysema; Erythroderma; Failure to thrive; Fine hair; Global developmental delay; Hypernatremic dehydration; Increased IgE level; Intellectual disability; Irregular hyperpigmentation; Malabsorption; Recurrent infections; Recurrent respiratory infections; Seizures; Sparse and thin eyebrow; Sparse scalp hair; Trichorrhexis nodosa; Urticaria; Villous atrophyPalmoplantar keratoderma plus congenital ichthyosis
SRD5A34q12100%gene with protein product611715Abnormality of skin pigmentation; Autosomal recessive inheritance; Brachycephaly; Bulbous nose; Capillary hemangiomas; Cataract; Cerebellar vermis hypoplasia; Coloboma; Cutis laxa; Depressed nasal bridge; Eczema; Elbow flexion contracture; Elevated hepatic transaminases; Generalized hypotonia; Hyperkeratosis; Hypertelorism; Hypertrichosis; Ichthyosis; Infantile onset; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Iris coloboma; Knee flexion contracture; Low-set ears; Microcytic anemia; Motor delay; Nystagmus; Polymicrogyria; Reduced antithrombin III activity; Thick lower lip vermilion; Thoracic kyphosis; Type I transferrin isoform profile; Visual loss; Wide nasal bridgePalmoplantar keratoderma plus congenital ichthyosis
SRP5414q13.2100%gene with protein product604857Abnormality of the metaphysis; Anemia; Delayed skeletal maturation; Eczema; Exocrine pancreatic insufficiency; Failure to thrive; Generalized hypotonia; Global developmental delay; Ichthyosis; Intellectual disability; Malabsorption; Neutropenia; Osteopenia; Recurrent infections; Short stature; ThrombocytopeniaBone Marrow Failure Syndromes
STAT12q32.2100%gene with protein product600555Autoimmune hemolytic anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; B lymphocytopenia; Bronchiectasis; Carotid artery dilatation; Chronic mucocutaneous candidiasis; Delayed puberty; Delayed skeletal maturation; Diarrhea; Dilatation of the cerebral artery; Eczema; Enterocolitis; Functional abnormality of the bladder; Generalized osteoporosis; Hepatosplenomegaly; Herpes simplex encephalitis; Immune dysregulation; Immunodeficiency; Incomplete penetrance; Lymphopenia; Osteopenia; Phenotypic variability; Primary hypothyroidism; Recurrent mycobacterial infections; Recurrent respiratory infections; Recurrent upper respiratory tract infections; Renal artery stenosis; Renovascular hypertension; Short stature; Susceptibility to herpesvirus; Thyroiditis; Type I diabetes mellitus; Villous atrophyAutoimmune Disorders ; Inflammatory Bowel Disease
STAT317q21.2100%gene with protein product102582Abnormal heart morphology; Abnormality of the hair; Arthrogryposis multiplex congenita; Atelectasis; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Bilateral ptosis; Celiac disease; Chronic otitis media; Cleft palate; Coarse facial features; Contractures of the joints of the lower limbs; Cough; Decreased antibody level in blood; Deeply set eye; Dehydration; Delayed eruption of teeth; Downturned corners of mouth; Dystrophic fingernails; Eczema; Eczematoid dermatitis; Eosinophilia; Failure to thrive; Frontal bossing; Generalized abnormality of skin; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Gingivitis; Global developmental delay; Glycosuria; High palate; Hyperglycemia; Hypertelorism; Hypovolemia; Increased IgE level; Infantile onset; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Ketonuria; Microalbuminuria; Motor delay; Neonatal insulin-dependent diabetes mellitus; Osteopenia; Papule; Paronychia; Persistence of primary teeth; Prominent forehead; Prominent metopic ridge; Pruritus; Recurrent fractures; Recurrent fungal infections; Recurrent respiratory infections; Recurrent sinopulmonary infections; Recurrent Staphylococcus aureus infections; Reduced pancreatic beta cells; Retinopathy; Scoliosis; Short stature; Skin rash; Skin ulcer; Weight loss; Wide nasal bridge; Wide noseAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
STAT317q21.2100%gene with protein product102582Abnormal heart morphology; Abnormality of the hair; Arthrogryposis multiplex congenita; Atelectasis; Autoimmune hemolytic anemia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Bilateral ptosis; Celiac disease; Chronic otitis media; Cleft palate; Coarse facial features; Contractures of the joints of the lower limbs; Cough; Decreased antibody level in blood; Deeply set eye; Dehydration; Delayed eruption of teeth; Downturned corners of mouth; Dystrophic fingernails; Eczema; Eczematoid dermatitis; Eosinophilia; Failure to thrive; Frontal bossing; Generalized abnormality of skin; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Gingivitis; Global developmental delay; Glycosuria; High palate; Hyperglycemia; Hypertelorism; Hypovolemia; Increased IgE level; Infantile onset; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Ketonuria; Microalbuminuria; Motor delay; Neonatal insulin-dependent diabetes mellitus; Osteopenia; Papule; Paronychia; Persistence of primary teeth; Prominent forehead; Prominent metopic ridge; Pruritus; Recurrent fractures; Recurrent fungal infections; Recurrent respiratory infections; Recurrent sinopulmonary infections; Recurrent Staphylococcus aureus infections; Reduced pancreatic beta cells; Retinopathy; Scoliosis; Short stature; Skin rash; Skin ulcer; Weight loss; Wide nasal bridge; Wide noseAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
SUOX12q13.2100%gene with protein product606887Agitation; Ataxia; Autosomal recessive inheritance; Choreoathetosis; Death in infancy; Decreased urinary sulfate; Delayed eruption of teeth; Ectopia lentis; Eczema; Fine hair; Generalized dystonia; Generalized hypotonia; Global developmental delay; Hemiplegia; Hypertonia; Increased urinary sulfite; Infantile muscular hypotonia; Seizures; Sulfite oxidase deficiency
TGM515q15.2100%gene with protein product603805Abnormal blistering of the skin; Allergy; Autosomal recessive inheritance; Eczema; Erythema; High hypermetropia; Ichthyosis; Scaling skinPalmoplantar keratoderma plus congenital ichthyosis
TNFRSF1B1p36.22100%gene with protein product191191TNFR2Abnormal lymphocyte morphology; Alopecia; Cutaneous T-cell lymphoma; Dry skin; Eczema; Erythema; Erythroderma; Hepatomegaly; Hypopigmented skin patches; Immunodeficiency; Irregular hyperpigmentation; Lichenification; Lymphadenopathy; Nail dystrophy; Neoplasm of the skin; Palmoplantar keratoderma; Poikiloderma; Pruritus; Skin plaque; Skin rash; Splenomegaly
TP633q28100%gene with protein product603273TP73L, TP53L, TP53CP2-3 toe syndactyly; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the anus; Abnormality of the clitoris; Abnormality of the nasopharynx; Abnormality of the nervous system; Absence of Stensen duct; Absent eyelashes; Absent lacrimal punctum; Absent nipple; Adermatoglyphia; Alopecia; Alopecia of scalp; Anhidrosis; Anhidrotic ectodermal dysplasia; Ankyloblepharon; Anonychia; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the phalanges of the hand; Aplasia/Hypoplasia of the phalanges of the toes; Aplasia/Hypoplasia of the skin; Atresia of the external auditory canal; Autosomal dominant inheritance; Bifid uvula; Bladder diverticulum; Bladder exstrophy; Blepharitis; Blepharophimosis; Blue irides; Breast hypoplasia; Camptodactyly; Carious teeth; Central diabetes insipidus; Choanal atresia; Cleft palate; Cleft upper lip; Coarse hair; Conductive hearing impairment; Conical tooth; Conjunctivitis; Corneal erosion; Cryptorchidism; Cutaneous photosensitivity; Dacryocystitis; Decreased number of sweat glands; Depressed nasal bridge; Depressed nasal tip; Dermal atrophy; Dry skin; Duplicated collecting system; Dystrophic fingernails; Dystrophic toenail; Ectodermal dysplasia; Ectrodactyly; Eczema; Epispadias; Fair hair; Fine hair; Finger syndactyly; Fingernail dysplasia; Freckling; Generalized hyperpigmentation; Generalized hypopigmentation; Growth hormone deficiency; Hallux valgus; Hearing impairment; High forehead; Hydronephrosis; Hydroureter; Hyperconvex fingernails; Hyperconvex nail; Hyperkeratosis; Hyperpigmentation of the skin; Hypodontia; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of penis; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Hypotrichosis; Inguinal hernia; Joint contracture of the hand; Keratitis; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Melanocytic nevus; Microdontia; Micrognathia; Micropenis; Microtia; Nail dysplasia; Nail dystrophy; Nail pits; Narrow mouth; Narrow nose; Nasolacrimal duct obstruction; Non-midline cleft lip; Oligodactyly; Oligodontia; Oral cleft; Oval face; Palmoplantar keratoderma; Patchy alopecia; Patent ductus arteriosus; Phenotypic variability; Photophobia; Pili canaliculi; Premature loss of permanent teeth; Progressive alopecia; Ptosis; Recurrent otitis media; Recurrent urinary tract infections; Reduced number of teeth; Renal agenesis; Renal dysplasia; Renal hypoplasia/aplasia; Selective tooth agenesis; Short stature; Skin ulcer; Slow-growing hair; Small nail; Small, conical teeth; Sparse and thin eyebrow; Sparse axillary hair; Sparse body hair; Sparse eyelashes; Sparse hair; Sparse pubic hair; Sparse scalp hair; Split foot; Split hand; Submucous cleft hard palate; Submucous cleft soft palate; Supernumerary nipple; Syndactyly; Taurodontia; Thick eyebrow; Thick nail; Thin skin; Toe syndactyly; Toenail dysplasia; Transverse vaginal septum; Triphalangeal thumb; Umbilical hernia; Underdeveloped nasal alae; Ureterocele; Urethral atresia; Vaginal dryness; Velopharyngeal insufficiency; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge; Widely spaced teeth; XerostomiaEctodermal Dysplasia
TRPM115q13.3100%gene with protein product603576MLSN1Abnormal electroretinogram; Abnormality of macular pigmentation; Congenital stationary night blindness; Dry skin; Eczema; High myopia; Myopia; Nyctalopia; Nystagmus; Optic disc hypoplasia; Reduced visual acuity
WASXp11.2399.19%gene with protein product300392IMD2, THC, WASPAbnormal platelet morphology; Abnormality of eosinophils; Abnormality of the musculature; Abnormality of the skin; Autoimmunity; Bruising susceptibility; Chronic diarrhea; Chronic obstructive pulmonary disease; Chronic otitis media; Congenital neutropenia; Congenital thrombocytopenia; Decreased mean platelet volume; Dyspnea; Eczema; Epistaxis; Fatigue; Fever; Hematemesis; Hematochezia; Hemolytic anemia; Immunodeficiency; Increased IgA level; Increased IgE level; Inflammation of the large intestine; Intermittent thrombocytopenia; Joint hemorrhage; Lymphopenia; Microcytic anemia; Monocytopenia; Neutropenia; Petechiae; Prolonged bleeding time; Recurrent bacterial infections; Recurrent respiratory infections; Sinusitis; Specific learning disability; Spontaneous hematomas; Thrombocytopenia; X-linked recessive inheritanceAplastic Anemia ; Autoimmune Disorders ; Bone Marrow Failure Syndromes ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease ; Primary Immunodeficiency
WIPF12q31.1100%gene with protein product602357WASPIPAbnormal platelet morphology; Abnormality of eosinophils; Autoimmunity; Autosomal recessive inheritance; Bruising susceptibility; Chronic diarrhea; Chronic obstructive pulmonary disease; Chronic otitis media; Decreased proportion of CD8-positive T cells; Dyspnea; Eczema; Fatigue; Fever; Hematemesis; Hematochezia; Hemolytic anemia; Immunodeficiency; Inflammation of the large intestine; Lymphopenia; Microcytic anemia; Petechiae; Prolonged bleeding time; Recurrent infections; Recurrent respiratory infections; Reduced natural killer cell activity; Sinusitis; Specific learning disability; Spontaneous hematomas; ThrombocytopeniaBone Marrow Failure Syndromes


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