Abnormality of the pharynx, Anemia, Anorectal anomaly, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Ataxia, Avascular necrosis, Blepharitis, Bone marrow hypocellularity, Carious teeth, Cataract, Cellular immunodeficiency, Cerebellar hypoplasia, Cerebral calcification, Cerebral cortical atrophy, Cirrhosis, Coarse metaphyseal trabecularization, Colitis, Decreased circulating antibody level, Dermal atrophy, Diabetes mellitus, Displacement of the urethral meatus, Eczematoid dermatitis, Esophageal stricture, Excessive wrinkled skin, Failure to thrive, Generalized hyperpigmentation, Generalized hypopigmentation of hair, Global developmental delay, Hearing impairment, Hepatic failure, Hepatomegaly, Hyperhidrosis, Hypermelanotic macule, Hypodontia, Hypopigmented skin patches, Hypoplasia of the maxilla, Hyporeflexia, Immunodeficiency, Intellectual disability, Intrauterine growth retardation, Leukopenia, Lymphoma, Macule, Malabsorption, Microcephaly, Nail dystrophy, Neoplasm, Neoplasm of the pancreas, Oral leukoplakia, Osteoporosis, Palmoplantar keratoderma, Periodontitis, Premature graying of hair, Pulmonary fibrosis, Recurrent fractures, Recurrent respiratory infections, Scoliosis, Short stature, Skin ulcer, Skin vesicle, Sparse hair, Sparse scalp hair, Spasticity, Splenomegaly, Taurodontia, Telangiectasia of the skin, Thrombocytopenia, Tracheoesophageal fistula, Urethral stenosis, Ventriculomegaly, White hair, obsolete Hypotrichosis

abnormal telomere morphology, cellular phenotype, decreased embryo size, decreased trophoblast giant cell number, early cellular replicative senescence, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, enlarged allantois, enlarged floor plate, failure of chorioallantoic fusion, hematoma, incomplete rostral neuropore closure, no abnormal phenotype detected, small allantois, small ectoplacental cone