Abnormality of the dentition, Abnormality of the pharynx, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Ataxia, Avascular necrosis, Blepharitis, Blindness, Bone marrow hypocellularity, Bowing of the long bones, Carious teeth, Cataract, Cellular immunodeficiency, Cerebral calcification, Cirrhosis, Coarse metaphyseal trabecularization, Diabetes mellitus, Displacement of the urethral meatus, Dysarthria, Dystonia, Esophageal stricture, Exudative retinopathy, Failure to thrive, Genu valgum, Global developmental delay, Hearing impairment, Hemiplegia, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hypermelanotic macule, Hypodontia, Hypopigmented skin patches, Hypoplasia of the maxilla, Increased susceptibility to fractures, Intestinal bleeding, Intrauterine growth retardation, Leukodystrophy, Leukoencephalopathy, Lymphoma, Macule, Malabsorption, Mental deterioration, Metaphyseal sclerosis, Morphological abnormality of the pyramidal tract, Nail dysplasia, Nail dystrophy, Neoplasm, Neoplasm of the pancreas, Optic atrophy, Oral leukoplakia, Osteopenia, Osteoporosis, Palmoplantar keratoderma, Pathologic fracture, Periodontitis, Premature graying of hair, Recurrent fractures, Recurrent respiratory infections, Retinal telangiectasia, Scoliosis, Seizure, Short femoral neck, Short stature, Skin ulcer, Skin vesicle, Sparse hair, Spasticity, Splenomegaly, Taurodontia, Telangiectasia of the skin, Thin skin, Thrombocytopenia, Tracheoesophageal fistula, Tremor, Urethral stenosis, White hair, obsolete Hypotrichosis

decreased prepulse inhibition, decreased splenocyte proliferation, early cellular replicative senescence, impaired hematopoiesis, premature death, preweaning lethality, complete penetrance, small spleen, small thymus