Ataxia, Atrial septal defect, Bradykinesia, Bruising susceptibility, Cerebellar atrophy, Cranial nerve paralysis, Decreased nerve conduction velocity, Developmental regression, Edema, Epistaxis, Fever, Foot dorsiflexor weakness, Gait disturbance, Gastrointestinal hemorrhage, Generalized hyperpigmentation, Generalized hypopigmentation, Generalized hypopigmentation of hair, Giant melanosomes in melanocytes, Gingival bleeding, Gingivitis, Global developmental delay, Hepatomegaly, Hypopigmentation of hair, Hypopigmentation of the skin, Hyporeflexia, Immunodeficiency, Incoordination, Intellectual disability, Iris hypopigmentation, Jaundice, Leukopenia, Lymphadenopathy, Lymphoma, Macular hypoplasia, Melanocytic nevus, Muscle weakness, Neurodegeneration, Neutropenia, Nystagmus, Ocular albinism, Paresthesia, Periodontitis, Peripheral neuropathy, Photophobia, Progressive peripheral neuropathy, Recurrent bacterial skin infections, Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent systemic pyogenic infections, Reduced visual acuity, Rigidity, Seizure, Skin ulcer, Spasticity, Splenomegaly, Strabismus, Thrombocytopenia, Tremor, Visual impairment, White hair

abnormal hippocampus pyramidal cell layer, abnormal iridocorneal angle, abnormal iris pigment epithelium, abnormal iris stroma morphology, abnormal lung development, abnormal lysosome morphology, abnormal melanocyte morphology, abnormal melanosome morphology, abnormal metastatic potential, abnormal retina layer morphology, abnormal retina pigment epithelium morphology, abnormal susceptibility to infection, abnormal tumor susceptibility, abnormal type II pneumocyte morphology, abnormal urine enzyme level, absent NK T cells, absent hair follicle melanin granules, accumulation of giant lysosomes in kidney/renal tubule cells, alveolitis, decreased Purkinje cell number, decreased cytotoxic T cell cytolysis, decreased ear pigmentation, decreased eye pigmentation, decreased lysosomal enzyme secretion, decreased macrophage cell number, decreased metastatic potential, decreased platelet ADP level, decreased platelet ATP level, decreased platelet serotonin level, decreased susceptibility to fungal infection, decreased tail pigmentation, delayed hair regrowth, diluted coat color, ectopic Bergmann glia cells, ectopic Purkinje cell, ectopic cerebellar granule cells, ectopic hippocampus pyramidal cells, enhanced behavioral response to xenobiotic, enlarged alveolar lamellar bodies, enlarged hair follicle melanin granules, enlarged melanosome, impaired balance, impaired lung alveolus development, impaired macrophage phagocytosis, impaired natural killer cell mediated cytotoxicity, impaired swimming, increased fasting circulating glucose level, increased incidence of induced tumors, increased kidney weight, increased susceptibility to Herpesvirales infection, increased susceptibility to parasitic infection, lysosomal protein accumulation, overexpanded pulmonary alveoli, premature hair loss, vision/eye phenotype