Abdominal pain, Abdominal symptom, Abnormal axial skeleton morphology, Abnormal facial shape, Abnormal immunoglobulin level, Abnormality of B cell physiology, Abnormality of B cells, Abnormality of blood and blood-forming tissues, Abnormality of body height, Abnormality of body weight, Abnormality of calvarial morphology, Abnormality of cellular immune system, Abnormality of circulating enzyme level, Abnormality of circulating protein level, Abnormality of erythrocytes, Abnormality of eye movement, Abnormality of fluid regulation, Abnormality of fontanelles, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of humoral immunity, Abnormality of immune system physiology, Abnormality of leukocytes, Abnormality of lymphocytes, Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of skeletal morphology, Abnormality of skin physiology, Abnormality of skull size, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the anterior segment of the eye, Abnormality of the calvaria, Abnormality of the central nervous system, Abnormality of the cerebellar vermis, Abnormality of the cerebellum, Abnormality of the cerebrum, Abnormality of the ear, Abnormality of the eye, Abnormality of the eyelid, Abnormality of the face, Abnormality of the fontanelles and cranial sutures, Abnormality of the forebrain, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the immune system, Abnormality of the inner ear, Abnormality of the integument, Abnormality of the lens, Abnormality of the liver, Abnormality of the lymphatic system, Abnormality of the lymph nodes, Abnormality of the metencephalon, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the ocular region, Abnormality of the outer ear, Abnormality of the palpebral fissures, Abnormality of the periorbital region, Abnormality of the sclera, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the skull, Abnormality of the spleen, Abnormality of thrombocytes, Abnormal joint morphology, Abnormal leukocyte count, Abnormal location of ears, Abnormal muscle tone, Abnormal platelet count, Agenesis of cerebellar vermis, All, Anemia, Anemia of inadequate production, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Arthralgia, Arthritis, Atrophy/Degeneration affecting the central nervous system, Atrophy/Degeneration affecting the cerebrum, Autosomal recessive inheritance, Blue sclerae, Cataract, Cerebellar atrophy, Cerebellar malformation, Cerebral atrophy, Cognitive impairment, Decreased body weight, Diarrhea, Dolichocephaly, Downslanted palpebral fissures, Edema, Elevated erythrocyte sedimentation rate, Elevated hepatic transaminases, Elevated serum creatine phosphokinase, Failure to thrive, Fluctuating hepatomegaly, Fluctuating splenomegaly, Functional abnormality of the inner ear, Generalized abnormality of skin, Global developmental delay, Growth abnormality, Growth delay, Headache, Hepatomegaly, Hepatosplenomegaly, Hypergammaglobulinemia, Hypoplastic anemia, Increased IgA level, Inflammatory abnormality of the skin, Large fontanelles, Leukocytosis, Low-set ears, Lymphadenopathy, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Nausea and vomiting, Normocytic hypoplastic anemia, Nystagmus, Phenotypic abnormality, Posteriorly rotated ears, Short stature, Skin rash, Slanting of the palpebral fissure, Splenomegaly, Thrombocytopenia, Triangular face, Vertigo, Vestibular dysfunction, Visceromegaly, Vomiting.