Abnormality of pelvic girdle bone morphology, Abnormality of temperature regulation, Abnormality of the dentition, Abnormality of the metaphysis, Abnormality of the nervous system, Abnormality of the vertebral endplates, Abnormality of visual evoked potentials, Anemia, Apnea, Arthritis, Avascular necrosis, Back pain, Blindness, Bone marrow hypocellularity, Bone pain, Bowing of the long bones, Bruising susceptibility, Carious teeth, Cerebellar atrophy, Chronic infection, Chronic rhinitis, Cortical sclerosis, Cranial nerve compression, Cranial nerve paralysis, Craniosynostosis, Delayed eruption of teeth, Delayed fine motor development, Delayed gross motor development, Dense metaphyseal bands, Dental malocclusion, Elevated circulating alkaline phosphatase concentration, Elevated serum acid phosphatase, Erlenmeyer flask deformity of the femurs, Facial palsy, Facial paralysis, Fractures of the long bones, Frontal bossing, Generalized hypotonia, Generalized osteosclerosis, Genu valgum, Growth delay, Hearing impairment, Hepatomegaly, Hepatosplenomegaly, Hip osteoarthritis, Hydrocephalus, Hypocalcemia, Hypophosphatemia, Hypopigmentation of the skin, Increased susceptibility to fractures, Intrauterine growth retardation, Joint dislocation, Lymphadenopathy, Macrocephaly, Mandibular osteomyelitis, Narrow chest, Nystagmus, Opsoclonus, Optic atrophy, Optic atrophy from cranial nerve compression, Optic disc pallor, Optic nerve compression, Osteoarthritis, Osteomyelitis, Osteopetrosis, Osteosclerosis of the base of the skull, Otitis media, Pallor, Petechiae, Polyhydramnios, Premature birth, Premature loss of primary teeth, Pulmonary arterial hypertension, Pulmonary artery stenosis, Recurrent fractures, Recurrent respiratory infections, Reduced bone mineral density, Reduced visual acuity, Reticulocytosis, Sandwich appearance of vertebral bodies, Sclerotic vertebral endplates, Short distal phalanx of finger, Short stature, Splenomegaly, Thrombocytopenia, Tremor, Visual impairment, Visual loss, obsolete Abnormality of the metacarpal bones

abnormal lysosome morphology, abnormal neocortex morphology, abnormal osteoclast morphology, abnormal osteoclast physiology, abnormal retina pigment epithelium morphology, abnormal stratification in cerebral cortex, absent photoreceptor inner segment, absent photoreceptor outer segment, accumulation of giant lysosomes in kidney/renal tubule cells, cellular phenotype, cerebral cortex pyramidal cell degeneration, decreased body length, decreased body size, decreased bone strength, decreased bone trabecular spacing, decreased compact bone area, decreased retina inner nuclear layer thickness, decreased survivor rate, enhanced autophagy, enlarged lateral ventricles, growth/size/body region phenotype, hippocampal neuron degeneration, hippocampus pyramidal cell degeneration, increased areal bone mineral density, increased bone mass, increased bone mineral content, increased bone trabecula number, increased bone volume, increased circulating alkaline phosphatase level, increased circulating parathyroid hormone level, increased osteoblast cell number, increased osteoclast cell number, increased trabecular bone thickness, increased trabecular bone volume, limb grasping, loss of cortex neurons, loss of hippocampal neurons, lysosomal protein accumulation, microgliosis, nervous system phenotype, no abnormal phenotype detected, optic nerve degeneration, pigmentation phenotype, postnatal lethality, incomplete penetrance, premature death, skeleton phenotype, small cranium, thin retina outer nuclear layer, tonic seizures, vision/eye phenotype