Atypical scarring of skin, Basal ganglia calcification, Carious teeth, Cataract, Cerebellar calcifications, Cerebral atrophy, Cryptorchidism, Cutaneous photosensitivity, Decreased lacrimation, Decreased nerve conduction velocity, Delayed eruption of primary teeth, Dementia, Dental malocclusion, Dermal atrophy, Dry hair, Dry skin, Dysarthria, Failure to thrive, Freckling, Gait disturbance, Hepatomegaly, Hypermetropia, Hypertension, Hypogonadism, Hypoplasia of teeth, Hypoplasia of the iris, Hypoplastic iliac wing, Hypoplastic pelvis, Increased cellular sensitivity to UV light, Intellectual disability, Intrauterine growth retardation, Ivory epiphyses of the phalanges of the hand, Kyphosis, Limitation of joint mobility, Loss of facial adipose tissue, Mandibular prognathia, Microcephaly, Microcornea, Micropenis, Microphthalmia, Muscle weakness, Normal pressure hydrocephalus, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Osteoporosis, Patchy demyelination of subcortical white matter, Peripheral dysmyelination, Pigmentary retinopathy, Polyneuropathy, Prematurely aged appearance, Progeroid facial appearance, Proteinuria, Reduced subcutaneous adipose tissue, Renal insufficiency, Retinal pigment epithelial mottling, Seizure, Sensorineural hearing impairment, Severe failure to thrive, Severe postnatal growth retardation, Severe short stature, Slender nose, Small for gestational age, Sparse hair, Splenomegaly, Square pelvis bone, Strabismus, Subcortical white matter calcifications, Thickened calvaria, Thymic hormone decreased, Tremor