Anhidrosis, Aplasia/Hypoplasia of the cerebellum, Arrhythmia, Arthrogryposis multiplex congenita, Ataxia, Atypical scarring of skin, Basal ganglia calcification, Bilateral microphthalmos, Blepharophimosis, Camptodactyly of finger, Carious teeth, Cataract, Cerebellar calcifications, Cerebellar hypoplasia, Cerebral atrophy, Cerebral calcification, Cerebral cortical atrophy, Cryptorchidism, Cutaneous photosensitivity, Decreased body weight, Decreased lacrimation, Decreased nerve conduction velocity, Deeply set eye, Delayed eruption of primary teeth, Dental malocclusion, Dermal atrophy, Dislocated radial head, Dry hair, Dry skin, EEG abnormality, Everted lower lip vermilion, Failure to thrive, Failure to thrive in infancy, Feeding difficulties in infancy, Flared metaphysis, Flexion contracture of toe, Global developmental delay, Hepatomegaly, Hip dislocation, Hypermetropia, Hyperreflexia, Hypertension, Hypogonadism, Hypoplasia of teeth, Hypoplasia of the iris, Hypoplastic iliac wing, Hypoplastic pelvis, Hypotonia, Increased cellular sensitivity to UV light, Intellectual disability, Intrauterine growth retardation, Ivory epiphyses of the phalanges of the hand, Joint stiffness, Kyphoscoliosis, Kyphosis, Limitation of joint mobility, Loss of facial adipose tissue, Low-set, posteriorly rotated ears, Mandibular prognathia, Microcephaly, Microcornea, Micrognathia, Micropenis, Microphthalmia, Muscle weakness, Normal pressure hydrocephalus, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Osteoporosis, Patchy demyelination of subcortical white matter, Peripheral dysmyelination, Peripheral neuropathy, Pigmentary retinopathy, Polymicrogyria, Polyneuropathy, Premature closure of fontanelles, Prematurely aged appearance, Progeroid facial appearance, Prominent metopic ridge, Prominent nasal bridge, Proteinuria, Reduced subcutaneous adipose tissue, Reduced tendon reflexes, Renal insufficiency, Rocker bottom foot, Seizure, Sensorineural hearing impairment, Severe failure to thrive, Severe global developmental delay, Severe short stature, Short neck, Short philtrum, Short stature, Simplified gyral pattern, Slender long bone, Slender nose, Small for gestational age, Sparse hair, Spasticity, Splenomegaly, Square pelvis bone, Strabismus, Subcortical white matter calcifications, Talipes equinovarus, Thickened calvaria, Tremor, Visual impairment, Wide nasal bridge

abnormal renal tubule morphology, aneuploidy, cochlear hair cell degeneration, decreased B cell proliferation, decreased birth body size, decreased body size, decreased cell proliferation, decreased circulating glucose level, decreased circulating insulin-like growth factor I level, decreased common myeloid progenitor cell number, decreased germ cell number, decreased granulocyte monocyte progenitor cell number, decreased hematopoietic stem cell number, decreased hepatocyte proliferation, decreased megakaryocyte-erythroid progenitor cell number, decreased skeletal muscle mass, dilated renal tubules, early cellular replicative senescence, embryonic growth retardation, embryonic lethality during organogenesis, incomplete penetrance, fetal growth retardation, hematopoietic system phenotype, increased cellular sensitivity to oxidative stress, increased circulating lactate level, increased hepatocyte apoptosis, increased liver triglyceride level, increased or absent threshold for auditory brainstem response, increased physiological sensitivity to xenobiotic, increased retina apoptosis, increased sensitivity to xenobiotic induced morbidity/mortality, lethality at weaning, complete penetrance, polyploidy, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature aging, premature death, thin retina outer nuclear layer