Ankyloblepharon, Aplasia/Hypoplasia of the nails, Arteriosclerosis, Arthralgia, Astigmatism, Ataxia, Basal cell carcinoma, Basal ganglia calcification, Bilateral microphthalmos, Bilateral sensorineural hearing impairment, Bird-like facies, Blepharitis, Brittle hair, Cachexia, Cardiomyopathy, Carious teeth, Cataract, Cerebellar atrophy, Cerebral cortical atrophy, Cerebral dysmyelination, Clubbing, Coarse facial features, Coarse hair, Cognitive impairment, Concave nail, Confusion, Congenital exfoliative erythroderma, Congenital nonbullous ichthyosiform erythroderma, Conjunctival telangiectasia, Conjunctivitis, Craniofacial hyperostosis, Craniosynostosis, Cryptorchidism, Cutaneous melanoma, Cutaneous photosensitivity, Decreased fertility, Decreased nerve conduction velocity, Decreased testicular size, Defective DNA repair after ultraviolet radiation damage, Delayed skeletal maturation, Demyelinating peripheral neuropathy, Dermal atrophy, Developmental cataract, Developmental regression, Diffuse cerebellar atrophy, Diplopia, Dry skin, Dysarthria, Dysphonia, Dystrophic fingernails, EEG abnormality, Ectropion, Eczematoid dermatitis, Enamel hypoplasia, Entropion, Epicanthus, Erythema, Esotropia, Failure to thrive, Fatigue, Fever, Flat nasal alae, Fragile nails, Freckling, Gait ataxia, Generalized hyperreflexia, Generalized hypotonia, Generalized-onset seizure, Global developmental delay, Gonadal dysgenesis, Hearing impairment, High, narrow palate, Hydrocephalus, Hyperkeratosis, Hypermelanotic macule, Hyperreflexia, Hypertelorism, Hypogonadism, Hypopigmented skin patches, Hypoplasia of mandible relative to maxilla, Hyporeflexia, Hypotelorism, Ichthyosis, Increased bone mineral density, Increased cellular sensitivity to UV light, Increased mean corpuscular hemoglobin concentration, Intellectual disability, Intellectual disability, progressive, Intention tremor, Intrauterine growth retardation, Joint dislocation, Keratitis, Keratoconjunctivitis sicca, Low-set nipples, Macular degeneration, Macule, Melanocytic nevus, Melanoma, Microcephaly, Microcornea, Microphthalmia, Multiple joint contractures, Myopia, Neoplasm, Neoplasm of the eye, Neutropenia, Numerous pigmented freckles, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Osteopenia, Panhypogammaglobulinemia, Papilloma, Paraplegia/paraparesis, Partial agenesis of the corpus callosum, Peripheral neuropathy, Periventricular leukomalacia, Photophobia, Pigmentary retinopathy, Poikiloderma, Prematurely aged appearance, Progeroid facial appearance, Protruding ear, Psychomotor retardation, Pterygium, Recurrent bronchopulmonary infections, Recurrent infections, Reduced social reciprocity, Reduced tendon reflexes, Retinal degeneration, Retinopathy, Retrognathia, Ridged nail, Seizure, Sensorineural hearing impairment, Short stature, Skin rash, Sparse scalp hair, Spasticity, Split nail, Squamous cell carcinoma, Squamous cell carcinoma of the skin, Strabismus, Telangiectasia, Telangiectasia of the skin, Thickened skin, Thin skin, Thoracic kyphosis, Tiger tail banding, Umbilical hernia, Urticaria, Ventricular septal defect, Ventriculomegaly, obsolete Bronchospasm, obsolete Hypotrichosis