XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Leukemia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ATM11q22.399.93%gene with protein product607585ATA, ATDC, ATC, ATDAbnormal spermatogenesis; Abnormality of bone marrow cell morphology; Abnormality of chromosome stability; Abnormality of the hair; Anorexia; Aplasia/Hypoplasia of the thymus; Ataxia; Autosomal recessive inheritance; B-cell lymphoma; Bronchiectasis; Cafe-au-lait spot; Cellular immunodeficiency; Choreoathetosis; Conjunctival telangiectasia; Decreased antibody level in blood; Decreased proportion of CD4-positive T cells; Defective B cell differentiation; Delayed puberty; Diabetes mellitus; Dysarthria; Dystonia; Elevated alpha-fetoprotein; Elevated hepatic transaminases; Fatigue; Female hypogonadism; Fever; Gait disturbance; Glucose intolerance; Hodgkin lymphoma; Hypopigmentation of hair; Hypoplasia of the thymus; IgA deficiency; Immunoglobulin IgG2 deficiency; Leukemia; Lymphadenopathy; Lymphopenia; Mucosal telangiectasiae; Myoclonus; Neoplasm; Non-Hodgkin lymphoma; Nystagmus; Polycystic ovaries; Premature graying of hair; Recurrent bronchitis; Recurrent respiratory infections; Reduced tendon reflexes; Seizures; Short stature; Sinusitis; Skeletal muscle atrophy; Spasticity; Splenomegaly; Strabismus; Telangiectasia of the skin; Tremor; Weight lossAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
BLM15q26.199.99%gene with protein product604610Abnormality of chromosome stability; Agenesis of maxillary lateral incisor; Autosomal recessive inheritance; Azoospermia; Bronchiectasis; Cafe-au-lait spot; Chromosome breakage; Chronic lung disease; Clinodactyly of the 5th finger; Cryptorchidism; Cutaneous photosensitivity; Decreased fertility in females; Delayed skeletal maturation; Diarrhea; Dolichocephaly; Erythema; Facial telangiectasia in butterfly midface distribution; Hand polydactyly; High pitched voice; Hypertrichosis; Hypoplasia of the zygomatic bone; IgA deficiency; IgG deficiency; IgM deficiency; Intrauterine growth retardation; Leukemia; Lymphoma; Malar flattening; Microcephaly; Narrow face; Postnatal growth retardation; Prominent nose; Protruding ear; Recurrent respiratory infections; Short nose; Short stature; Sinusitis; Specific learning disability; Spotty hyperpigmentation; Spotty hypopigmentation; Squamous cell carcinoma; Syndactyly; Type II diabetes mellitusBone Marrow Failure Syndromes ; Primary Immunodeficiency
BUB1B15q15.1100%gene with protein product602860Abnormality of vision; Agenesis of corpus callosum; Ambiguous genitalia; Anteverted nares; Ascites; Autosomal recessive inheritance; Bifid scrotum; Brachycephaly; Cataract; Cerebellar hypoplasia; Cerebral hypoplasia; Cleft palate; Combined immunodeficiency; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Depressed nasal bridge; Epicanthus; Feeding difficulties in infancy; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Glaucoma; Global developmental delay; Hereditary nonpolyposis colorectal carcinoma; High forehead; Hydrocephalus; Hypertelorism; Hypodysplasia of the corpus callosum; Hypospadias; Increased nuchal translucency; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Leukemia; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Muscular dystrophy; Neoplasm of the stomach; Nephroblastoma; Nystagmus; Oligohydramnios; Phenotypic variability; Polyhydramnios; Posteriorly rotated ears; Postnatal growth retardation; Premature chromatid separation; Renal cell carcinoma; Renal cyst; Rhabdomyosarcoma; Severe global developmental delay; Short neck; Short nose; Short stature; Short sternum; Small for gestational age; Transitional cell carcinoma of the bladder; Triangular face; Triangular mouth; Upslanted palpebral fissure; Uterine leiomyosarcoma; Ventriculomegaly; Wide nose
FANCA16q24.3100%gene with protein product607139FACA, FANCHAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of skin pigmentation; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anemia; Anemic pallor; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bruising susceptibility; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Complete duplication of thumb phalanx; Cryptorchidism; Deficient excision of UV-induced pyrimidine dimers in DNA; Duplicated collecting system; Ectopic kidney; Esophageal atresia; Global developmental delay; Hearing impairment; Horseshoe kidney; Hypergonadotropic hypogonadism; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Microphthalmia; Neutropenia; Pancytopenia; Prolonged G2 phase of cell cycle; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Reticulocytopenia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Small for gestational age; Strabismus; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCC9q22.32100%gene with protein product613899FACCAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of skin pigmentation; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anemia; Anemic pallor; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bruising susceptibility; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Complete duplication of thumb phalanx; Cryptorchidism; Deficient excision of UV-induced pyrimidine dimers in DNA; Duplicated collecting system; Ectopic kidney; Esophageal atresia; Global developmental delay; Hearing impairment; Horseshoe kidney; Hypergonadotropic hypogonadism; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Microphthalmia; Neutropenia; Pancytopenia; Prolonged G2 phase of cell cycle; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Reticulocytopenia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Small for gestational age; Strabismus; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCD23p25.399.99%gene with protein product613984FACD, FANCDAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of skin pigmentation; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anemia; Anemic pallor; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bruising susceptibility; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Complete duplication of thumb phalanx; Cryptorchidism; Deficient excision of UV-induced pyrimidine dimers in DNA; Duplicated collecting system; Ectopic kidney; Esophageal atresia; Global developmental delay; Hearing impairment; Horseshoe kidney; Hypergonadotropic hypogonadism; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Microphthalmia; Neutropenia; Pancytopenia; Prolonged G2 phase of cell cycle; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Reticulocytopenia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Small for gestational age; Strabismus; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCE6p21.31100%gene with protein product613976FACEAbnormal heart morphology; Abnormality of chromosome stability; Abnormality of skin pigmentation; Absent radius; Absent thumb; Almond-shaped palpebral fissure; Anemia; Anemic pallor; Aplasia/Hypoplasia of the radius; Autosomal recessive inheritance; Bruising susceptibility; Cafe-au-lait spot; Chromosomal breakage induced by crosslinking agents; Complete duplication of thumb phalanx; Cryptorchidism; Deficient excision of UV-induced pyrimidine dimers in DNA; Duplicated collecting system; Ectopic kidney; Esophageal atresia; Global developmental delay; Hearing impairment; Horseshoe kidney; Hypergonadotropic hypogonadism; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Microphthalmia; Neutropenia; Pancytopenia; Prolonged G2 phase of cell cycle; Pyridoxine-responsive sideroblastic anemia; Renal agenesis; Reticulocytopenia; Scoliosis; Short palpebral fissure; Short stature; Short thumb; Small for gestational age; Strabismus; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
FANCG9p13.3100%gene with protein product602956XRCC9Abnormality of chromosome stability; Abnormality of the thumb; Almond-shaped palpebral fissure; Anemia; Aplasia/Hypoplasia of the radius; Esophageal atresia; Global developmental delay; Hypopigmented skin patches; Intellectual disability; Irregular hyperpigmentation; Leukemia; Leukopenia; Microcephaly; Multiple cafe-au-lait spots; Myelodysplasia; Neutropenia; Pyridoxine-responsive sideroblastic anemia; Scoliosis; Short palpebral fissure; Short stature; Thrombocytopenia; Tracheoesophageal fistulaAplastic Anemia ; Bone Marrow Failure Syndromes ; Fanconi Anemia
HAX11q21.3100%gene with protein product605998Autosomal recessive inheritance; Infantile onset; Leukemia; Myelodysplasia; Neutropenia; Recurrent bacterial infectionsAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
MLH13p22.299.99%gene with protein product120436COCA2Abdominal pain; Abnormality of abdomen morphology; Adenoma sebaceum; Anxiety; Astrocytoma; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary freckling; Basal cell carcinoma; Benign gastrointestinal tract tumors; Benign genitourinary tract neoplasm; Breast carcinoma; Cafe-au-lait spot; Colon cancer; Colonic diverticula; Constipation; Death in early adulthood; Death in infancy; Depressivity; Duodenal adenocarcinoma; Ependymoma; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hypermelanotic macule; Hypertonia; Increased intracranial pressure; Irritability; Laryngeal carcinoma; Leukemia; Lymphoma; Malabsorption; Malignant genitourinary tract tumor; Medulloblastoma; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Neoplasm of the stomach; Neuroblastoma; Rhabdomyosarcoma; Sebaceous gland carcinoma; Seizures; Weight loss
MSH22p21-p16.399.98%gene with protein productThe published inversion of exons 1-7 is not evaluated by XomeDxSlice but can be ordered separately: https://www.genedx.com/test-catalog/available-tests/msh2-exons-1-7-inversion-analysis/609309COCA1Abdominal pain; Abnormality of abdomen morphology; Adenoma sebaceum; Anxiety; Astrocytoma; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary freckling; Basal cell carcinoma; Benign gastrointestinal tract tumors; Benign genitourinary tract neoplasm; Breast carcinoma; Cafe-au-lait spot; Colon cancer; Colonic diverticula; Constipation; Death in early adulthood; Death in infancy; Depressivity; Duodenal adenocarcinoma; Ependymoma; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hypermelanotic macule; Hypertonia; Increased intracranial pressure; Irritability; Laryngeal carcinoma; Leukemia; Lymphoma; Malabsorption; Malignant genitourinary tract tumor; Medulloblastoma; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Neoplasm of the stomach; Neuroblastoma; Rhabdomyosarcoma; Sebaceous gland carcinoma; Seizures; Weight loss
MSH62p16.3100%gene with protein product600678GTBPAbdominal pain; Abnormality of abdomen morphology; Adenoma sebaceum; Anxiety; Astrocytoma; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary freckling; Basal cell carcinoma; Cafe-au-lait spot; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Endometrial carcinoma; Ependymoma; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hereditary nonpolyposis colorectal carcinoma; Hypermelanotic macule; Hypertonia; Incomplete penetrance; Increased intracranial pressure; Irritability; Leukemia; Lymphoma; Malabsorption; Medulloblastoma; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Neoplasm of the stomach; Neuroblastoma; Rhabdomyosarcoma; Seizures; Weight loss
MYD883p22.2100%gene with protein product602170Abnormality of neutrophils; Autosomal dominant inheritance; Gingival bleeding; Hypercoagulability; Immunodeficiency; Impaired lymphocyte transformation with phytohemagglutinin; Leukemia; Lymphoma; Monoclonal immunoglobulin M proteinemia; Normocytic anemia; Pallor; Polyclonal elevation of IgM; Polyneuropathy; Recurrent bacterial skin infections; Respiratory insufficiency; Vertigo
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
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
PMS27p22.196.7%gene with protein product600259PMSL2Abdominal pain; Abnormality of abdomen morphology; Anxiety; Astrocytoma; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary freckling; Basal cell carcinoma; Cafe-au-lait spot; Colon cancer; Constipation; Death in early adulthood; Death in infancy; Depressivity; Endometrial carcinoma; Ependymoma; Fatigue; Gastrointestinal hemorrhage; Glioblastoma multiforme; Hereditary nonpolyposis colorectal carcinoma; Hypermelanotic macule; Hypertonia; Increased intracranial pressure; Irritability; Leukemia; Lymphoma; Malabsorption; Medulloblastoma; Migraine; Muscular hypotonia; Nausea and vomiting; Neoplasm of the rectum; Neuroblastoma; Ovarian neoplasm; Rhabdomyosarcoma; Seizures; Weight loss
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
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


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