Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Avascular necrosis, Blepharitis, Bone marrow hypocellularity, Carious teeth, Cataract, Cellular immunodeficiency, Cerebral calcification, Cirrhosis, Coarse metaphyseal trabecularization, Diabetes mellitus, Displacement of the urethral meatus, Esophageal stricture, Global developmental delay, Growth delay, Hearing impairment, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hypermelanotic macule, Hypodontia, Hypopigmented skin patches, Hypoplasia of the maxilla, Intellectual disability, Intrauterine growth retardation, Lymphoma, Macule, Malabsorption, Nail dysplasia, Nail dystrophy, Neoplasm, Neoplasm of the pancreas, Oral leukoplakia, Osteoporosis, Palmoplantar keratoderma, Pancytopenia, Periodontitis, Premature graying of hair, Recurrent fractures, Recurrent respiratory infections, Reticulated skin pigmentation, Scoliosis, Short stature, Skin ulcer, Skin vesicle, Sparse hair, Splenomegaly, Taurodontia, Telangiectasia of the skin, Testicular atrophy, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis, White hair, obsolete Hypotrichosis