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
Purpura

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACP519p13.2100%gene with protein product171640Abnormal form of the vertebral bodies; Abnormality of epiphysis morphology; Abnormality of the metaphysis; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cellular immunodeficiency; Combined immunodeficiency; Decrease in T cell count; Delayed eruption of teeth; Hyperlordosis; Hypermelanotic macule; Hypopigmented skin patches on arms; Hypothyroidism; Immune dysregulation; Irregular vertebral endplates; Juvenile onset; Kyphoscoliosis; Kyphosis; Large iliac wings; Low-set ears; Lumbar hyperlordosis; Lymphadenopathy; Metaphyseal irregularity; Metaphyseal sclerosis; Micromelia; Narrow nose; Platyspondyly; Pneumonia; Progressive spastic quadriplegia; Purpura; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Restrictive ventilatory defect; Rheumatoid arthritis; Rhizomelia; Short stature; Spastic diplegia; Spondylometaphyseal dysplasia; Tubulointerstitial fibrosis; VitiligoAutoimmune Disorders
ADA222q11.199.99%gene with protein productFormer name = CECR1607575IDGFL, CECR1Abdominal pain; Agitation; Amaurosis fugax; Antiphospholipid antibody positivity; Aphasia; Arterial stenosis; Arthritis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Behavioral abnormality; Cutis marmorata; Dementia; Developmental regression; Dilatation; Dysarthria; Elevated hepatic transaminases; Erythema nodosum; Facial palsy; Fever; Headache; Hemiparesis; Hemiplegia; Hepatomegaly; Hypertension; Immunodeficiency; Memory impairment; Mental deterioration; Migraine; Motor delay; Muscle weakness; Myalgia; Ophthalmoplegia; Panniculitis; Peripheral neuropathy; Progressive; Purpura; Raynaud phenomenon; Seizures; Splenomegaly; Sporadic; Stroke; Thromboembolic stroke; Tremor; Variable expressivity; Vertigo; Visual field defectAutoimmune Disorders
AIP11q13.2100%gene with protein product605555Abdominal obesity; Abnormal fear/anxiety-related behavior; Abnormal toenail morphology; Abnormality of hair density; Abnormality of the fingernails; Adrenocorticotropic hormone deficiency; Adrenocorticotropin deficient adrenal insufficiency; Alkalosis; Amenorrhea; Anterior hypopituitarism; Anxiety; Arthralgia; Autosomal dominant inheritance; Biconcave vertebral bodies; Broad foot; Broad forehead; Broad jaw; Bruising susceptibility; Cardiomyopathy; Cerebral palsy; Coarse facial features; Cortical diaphyseal thickening of the upper limbs; Decreased circulating ACTH level; Decreased female libido; Decreased fertility in females; Decreased fertility in males; Deep palmar crease; Deep plantar creases; Depressivity; Diabetes mellitus; Dysmenorrhea; Dyspareunia; Easy fatigability; Edema; Facial erythema; Fatigue; Female hypogonadism; Frontal bossing; Full cheeks; Galactorrhea; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Gynecomastia; Headache; Hirsutism; Hoarse voice; Hyperhidrosis; Hypertension; Hypogonadotrophic hypogonadism; Hypokalemia; Hypotension; Impotence; Increased circulating ACTH level; Increased serum insulin-like growth factor 1; Joint swelling; Kyphosis; Large hands; Left ventricular hypertrophy; Long face; Long penis; Macrodactyly; Macroglossia; Macrotia; Male hypogonadism; Mandibular prognathia; Menstrual irregularities; Migraine; Mood changes; Nephrolithiasis; Oligomenorrhea; Osteoarthritis; Osteopenia; Osteoporosis; Pallor; Palpebral edema; Paresthesia; Pituitary adenoma; Pituitary growth hormone cell adenoma; Pituitary hypothyroidism; Pituitary prolactin cell adenoma; Poor wound healing; Progressive visual loss; Prolactin excess; Prolactinoma; Psychotic mentation; Purpura; Secondary growth hormone deficiency; Skeletal muscle atrophy; Sleep apnea; Somatic mutation; Spinal canal stenosis; Striae distensae; Symmetric great toe depigmentation; Synophrys; Tall stature; Tapered finger; Thick lower lip vermilion; Thin skin; Vertebral compression fractures; Vomiting; Wide nose; Widely spaced teethAutoimmune Disorders ; Obesity
C26p21.33100%gene with protein product613927Autosomal recessive inheritance; Purpura; Systemic lupus erythematosusAlbinism ; Aplastic Anemia ; Autoimmune Disorders ; Bardet-Biedl Syndrome ; Bone Marrow Failure Syndromes ; Common Variable Immune Deficiency ; Disorders of Sex Development; Ectodermal Dysplasia ; Hemolytic Anemia ; Heterotaxy ; Inflammatory Bowel Disease ; Male Infertility ; Nephrotic Syndrome ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Primary Immunodeficiency; Rhabdomyolysis ; Short-Rib Thoracic Dysplasia
C4A6p21.330 %gene with protein productLocated in the Chr 6 MHC Region120810Abdominal pain; Abnormal blistering of the skin; Acne; Arthralgia; Arthritis; Autosomal recessive inheritance; Complement deficiency; Confusion; Cutaneous photosensitivity; Fatigue; Fever; Gait disturbance; Gastrointestinal hemorrhage; Glomerulonephritis; Hemiparesis; Immunologic hypersensitivity; Meningitis; Migraine; Myalgia; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Purpura; Recurrent aphthous stomatitis; Subcutaneous nodule; Systemic lupus erythematosus; Vasculitis; Venous thrombosisHemolytic Anemia
CD1916p11.2100%gene with protein product107265Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
CD8111p15.599.74%gene with protein product186845TAPA1Anal atresia; Autoimmune thrombocytopenia; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Decreased antibody level in blood; Elevated hepatic transaminases; Hemolytic anemia; Immunodeficiency; Lymphadenopathy; Lymphopenia; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent respiratory infections; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
CD8111p15.599.74%gene with protein product186845TAPA1Anal atresia; Autoimmune thrombocytopenia; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Decreased antibody level in blood; Elevated hepatic transaminases; Hemolytic anemia; Immunodeficiency; Lymphadenopathy; Lymphopenia; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent respiratory infections; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
CR21q32.2100%gene with protein product120650Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic diarrhea; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent respiratory infections; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency ; Disorders of Sex Development
GP1BA17p13.299.92%gene with protein product606672GP1BAbnormal bleeding; Abnormality of abdomen morphology; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Epistaxis; Gingival bleeding; Hemolytic anemia; Increased mean platelet volume; Intermittent thrombocytopenia; Menorrhagia; Petechiae; Prolonged bleeding after dental extraction; Prolonged bleeding time; Purpura; Splenomegaly; Stomatocytosis; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes
GP1BB22q11.2199.89%gene with protein product138720Abnormal aortic arch morphology; Abnormal bleeding; Abnormal pulmonary valve morphology; Abnormality of abdomen morphology; Abnormality of the pharynx; Abnormality of the tonsils; Acne; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Bulbous nose; Carious teeth; Chronic otitis media; Cleft palate; Conductive hearing impairment; Constipation; Corneal neovascularization; Dysphasia; Epicanthus; Epistaxis; Global developmental delay; Hypocalcemia; Hypoparathyroidism; Hypoplasia of the thymus; Immunodeficiency; Impaired T cell function; Increased mean platelet volume; Intellectual disability, mild; Long face; Long philtrum; Low-set ears; Malar flattening; Menorrhagia; Muscular hypotonia; Myalgia; Nasal speech; Occipital myelomeningocele; Overfolded helix; Platybasia; Posterior embryotoxon; Prolonged bleeding time; Prominent nasal bridge; Ptosis; Purpura; Renal hypoplasia; Seborrheic dermatitis; Short neck; Short stature; Small earlobe; Specific learning disability; Telecanthus; Tetany; Tetralogy of Fallot; Thrombocytopenia; Truncus arteriosus; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge
GP93q21.3100%gene with protein product173515Abnormal bleeding; Abnormality of abdomen morphology; Autosomal recessive inheritance; Epistaxis; Increased mean platelet volume; Menorrhagia; Prolonged bleeding time; Purpura; Thrombocytopenia
ICOS2q33.2100%gene with protein product604558Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; B lymphocytopenia; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency ; Inflammatory Bowel Disease
ITGA2B17q21.31100%gene with protein product607759GP2BAnemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Decreased platelet glycoprotein IIb-IIIa; Epistaxis; Gastrointestinal hemorrhage; Giant platelets; Gingival bleeding; Impaired platelet aggregation; Intracranial hemorrhage; Macrothrombocytopenia; Menorrhagia; Petechiae; Prolonged bleeding time; Purpura
ITGB317q21.32100%gene with protein product173470GP3AAnemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bruising susceptibility; Decreased platelet glycoprotein IIb-IIIa; Epistaxis; Gastrointestinal hemorrhage; Giant platelets; Gingival bleeding; Impaired platelet aggregation; Intracranial hemorrhage; Macrothrombocytopenia; Menorrhagia; Petechiae; Prolonged bleeding time; Purpura
MS4A111q12.2100%gene with protein product112210CD20Anal atresia; Autoimmune thrombocytopenia; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Decreased antibody level in blood; Elevated hepatic transaminases; Hemolytic anemia; Immunodeficiency; Lymphadenopathy; Lymphopenia; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent respiratory infections; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
NFKB14q24100%gene with protein product164011Anal atresia; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Brachycephaly; Bronchiectasis; Chronic obstructive pulmonary disease; Chronic otitis media; Decreased antibody level in blood; Elevated hepatic transaminases; Hemolytic anemia; Immunodeficiency; Lymphadenopathy; Lymphopenia; Pneumonia; Purpura; Recurrent bronchitis; Recurrent sinopulmonary infections; Recurrent skin infections; Splenomegaly; Variable expressivityAutoimmune Disorders ; Common Variable Immune Deficiency ; Ectodermal Dysplasia ; Hemolytic Anemia
NFKB210q24.3299.99%gene with protein product164012Abnormal size of pituitary gland; Abnormality of the periungual region; Adrenocorticotropin deficient adrenal insufficiency; Anal atresia; Asthma; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Brachycephaly; Bronchiectasis; Central adrenal insufficiency; Chronic otitis media; Decreased antibody level in blood; Decreased circulating ACTH level; Decreased circulating cortisol level; Elevated hepatic transaminases; Fatigue; Hemolytic anemia; Hypoglycemic coma; Hyponatremia; Hypotension; Immunodeficiency; Lymphadenopathy; Lymphopenia; Nail dystrophy; Pneumonia; Purpura; Recurrent bronchitis; Recurrent hypoglycemia; Recurrent otitis media; Recurrent pharyngitis; Recurrent pneumonia; Recurrent respiratory infections; Recurrent sinusitis; Severe B lymphocytopenia; Severe viral infections; Splenomegaly; Variable expressivityAutoimmune Disorders ; Common Variable Immune Deficiency
ORAI112q24.3199.36%gene with protein product610277TMEM142AAbnormal thrombocyte morphology; Abnormality of coagulation; Abnormality of the musculature; Anemia; Areflexia of lower limbs; Asplenia; Autosomal dominant inheritance; Autosomal recessive inheritance; Centrally nucleated skeletal muscle fibers; Deeply set eye; Difficulty walking; Ectodermal dysplasia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Episodic fever; Failure to thrive; Fatiguable weakness of proximal limb muscles; Flexion contracture; Foot dorsiflexor weakness; Generalized muscle weakness; Gowers sign; Heat intolerance; High forehead; Hypocalcemia; Ichthyosis; Immunodeficiency; Increased variability in muscle fiber diameter; Miosis; Muscle cramps; Muscle fiber tubular inclusions; Muscular hypotonia; Myalgia; Myopathy; Neurological speech impairment; Proximal muscle weakness; Purpura; Recurrent aphthous stomatitis; Recurrent infections; Respiratory insufficiency due to muscle weakness; Short stature; Slow progression; Spinal rigidityAutoimmune Disorders ; Ectodermal Dysplasia
PRKCD3p21.1100%gene with protein product176977Anal atresia; Arthralgia; Autoimmune thrombocytopenia; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Decreased antibody level in blood; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; Immunodeficiency; Infantile onset; Lymphadenopathy; Lymphopenia; Membranous nephropathy; Nephrotic syndrome; Pneumonia; Purpura; Recurrent bronchitis; Recurrent infections; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
PROC2q14.3100%gene with protein product612283Abnormality of the eye; Abnormality of the nervous system; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral venous thrombosis; Deep venous thrombosis; Global developmental delay; Hypercoagulability; Pulmonary embolism; Purpura; Reduced protein C activity; Seizures; Superficial thrombophlebitis; Thin skin; Variable expressivity; Venous thrombosis; Vitreous hemorrhage; Warfarin-induced skin necrosis
PROC2q14.3100%gene with protein product612283Abnormality of the eye; Abnormality of the nervous system; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral venous thrombosis; Deep venous thrombosis; Global developmental delay; Hypercoagulability; Pulmonary embolism; Purpura; Reduced protein C activity; Seizures; Superficial thrombophlebitis; Thin skin; Variable expressivity; Venous thrombosis; Vitreous hemorrhage; Warfarin-induced skin necrosis
PROS13q11.199.29%gene with protein product176880PROSArterial thrombosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cerebral hemorrhage; Cerebral venous thrombosis; Deep venous thrombosis; Disseminated intravascular coagulation; Hypercoagulability; Pulmonary embolism; Purpura; Reduced protein S activity; Retinopathy; Superficial thrombophlebitis; Thin skin; Thrombophlebitis; Warfarin-induced skin necrosis
PROS13q11.199.29%gene with protein product176880PROSArterial thrombosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Blindness; Cerebral hemorrhage; Cerebral venous thrombosis; Deep venous thrombosis; Disseminated intravascular coagulation; Hypercoagulability; Pulmonary embolism; Purpura; Reduced protein S activity; Retinopathy; Superficial thrombophlebitis; Thin skin; Thrombophlebitis; Warfarin-induced skin necrosis
STIM111p15.4100%gene with protein product605921Abnormal thrombocyte morphology; Abnormality of coagulation; Abnormality of the musculature; Adult onset; Anemia; Areflexia of lower limbs; Asplenia; Autoimmune hemolytic anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Centrally nucleated skeletal muscle fibers; Deeply set eye; Difficulty running; Easy fatigability; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Episodic fever; Exercise-induced myalgia; Fatiguable weakness of proximal limb muscles; Frequent falls; High forehead; Hypohidrosis; Hypoplasia of the iris; Hyporeflexia of lower limbs; Ichthyosis; Immunodeficiency; Increased variability in muscle fiber diameter; Lymphadenopathy; Miosis; Muscle cramps; Muscle fiber tubular inclusions; Muscle stiffness; Muscular hypotonia; Myalgia; Myopathy; Nail dysplasia; Neurological speech impairment; Proximal amyotrophy; Proximal muscle weakness; Purpura; Recurrent bacterial infections; Short stature; Slow progression; Thrombocytopenia; Type 2 muscle fiber atrophy; Variable expressivity; Weakness of the intrinsic hand musclesAutoimmune Disorders ; Inflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis
TNFRSF13B17p11.2100%gene with protein product604907Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent infection of the gastrointestinal tract; Recurrent otitis media; Recurrent pneumonia; Recurrent sinopulmonary infections; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency ; Primary Immunodeficiency
TNFRSF13C22q13.2100%gene with protein product606269Adult onset; Anal atresia; Autoimmune thrombocytopenia; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Bronchiectasis; Chronic otitis media; Conjunctivitis; Decreased antibody level in blood; Diarrhea; Elevated hepatic transaminases; Hemolytic anemia; Hepatomegaly; IgA deficiency; IgG deficiency; IgM deficiency; Immunodeficiency; Impaired T cell function; Lymphadenopathy; Lymphoma; Lymphopenia; Meningitis; Neoplasm; Phenotypic variability; Pneumonia; Purpura; Recurrent bacterial infections; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Recurrent sinusitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
TNFSF1217p13.1100%gene with protein product602695Anal atresia; Autoimmune thrombocytopenia; Brachycephaly; Bronchiectasis; Chronic otitis media; Decreased antibody level in blood; Elevated hepatic transaminases; Hemolytic anemia; Immunodeficiency; Lymphadenopathy; Lymphopenia; Pneumonia; Purpura; Recurrent bronchitis; SplenomegalyAutoimmune Disorders ; Common Variable Immune Deficiency
USP815q21.2100%gene with protein product603158Abdominal obesity; Abnormal fear/anxiety-related behavior; Acne; Adrenal hyperplasia; Alkalosis; Anxiety; Biconcave vertebral bodies; Bruising susceptibility; Depressivity; Diabetes mellitus; Edema; Facial erythema; Failure to thrive; Fatigue; Generalized hirsutism; Glucose intolerance; Hirsutism; Hypertension; Hypokalemia; Immunodeficiency; Increased circulating ACTH level; Infertility; Kyphosis; Lipodystrophy; Menorrhagia; Metrorrhagia; Mood changes; Nephrolithiasis; Oligomenorrhea; Osteoporosis; Pituitary adenoma; Poor wound healing; Psychotic mentation; Purpura; Recurrent fractures; Round face; Skeletal muscle atrophy; Striae distensae; Thin skin; Truncal obesity; Vertebral compression fractures


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