Long philtrum, Low-set ears, Microcephaly, Motor delay, Neutropenia, Nystagmus, Ocular albinism, Periodontitis, Photophobia, Posteriorly rotated ears, Pulmonary fibrosis, Recurrent bacterial infections, Reduced visual acuity, Smooth philtrum, Splenomegaly, Strabismus, Thin upper lip vermilion, Thrombocytopenia, Upslanted palpebral fissure, Visual impairment, Wide nasal bridge

abnormal optic tract morphology, abnormal platelet activation, abnormal platelet dense granule morphology, abnormal platelet dense granule physiology, abnormal proximal convoluted tubule morphology, abnormal pulmonary alveolus morphology, abnormal superior colliculus morphology, abnormal visual cortex morphology, accumulation of giant lysosomes in kidney/renal tubule cells, behavior/neurological phenotype, decreased ear pigmentation, decreased eye pigmentation, decreased lysosomal enzyme secretion, decreased platelet ADP level, decreased platelet ATP level, decreased platelet dense granule number, decreased platelet serotonin level, decreased tail pigmentation, diluted coat color, hearing/vestibular/ear phenotype, increased susceptibility to Herpesvirales infection, lung hemorrhage, neonatal lethality, incomplete penetrance, overexpanded pulmonary alveoli, postnatal lethality, pregnancy-related premature death, premature death, white spotting