Cerebellar atrophy, Cerebral atrophy, Cerebral cortical atrophy, Cutaneous photosensitivity, Delayed skeletal maturation, Diarrhea, Dolichocephaly, Downslanted palpebral fissures, Edema, Elevated circulating creatine kinase concentration, Elevated circulating hepatic transaminase concentration, Elevated erythrocyte sedimentation rate, Erythema, Failure to thrive, Fluctuating hepatomegaly, Fluctuating splenomegaly, Gastrointestinal hemorrhage, Generalized hypotonia, Global developmental delay, Growth delay, Headache, Hepatomegaly, Hyperkeratosis, Hypermelanotic macule, Hypotonia, Increased circulating IgA level, Increased circulating IgD level, Intellectual disability, Intestinal obstruction, Kyphoscoliosis, Large fontanelles, Leukocytosis, Limitation of joint mobility, Low-set ears, Low-set, posteriorly rotated ears, Lymphadenopathy, Microcephaly, Migraine, Morbilliform rash, Myalgia, Nail dystrophy, Neutrophilia, Normocytic hypoplastic anemia, Nyctalopia, Nystagmus, Optic disc pallor, Papule, Parakeratosis, Peritonitis, Porokeratosis, Posteriorly rotated ears, Progressive cerebellar ataxia, Pruritus, Psychomotor retardation, Purpura, Recurrent aphthous stomatitis, Recurrent fever, Rod-cone dystrophy, Seizure, Short stature, Skin rash, Splenomegaly, Squamous cell carcinoma, Thrombocytopenia, Triangular face, Urticaria, Vasculitis, Vertigo, Vomiting

small epididymis, small seminal vesicle