Bilateral sensorineural hearing impairment, Bird-like facies, Brittle hair, Cardiomyopathy, Carious teeth, Cerebral cortical atrophy, Cerebral dysmyelination, Clubbing, Coarse facial features, Concave nail, Congenital exfoliative erythroderma, Conjunctivitis, Craniosynostosis, Cryptorchidism, Cutaneous photosensitivity, Decreased fertility, Defective DNA repair after ultraviolet radiation damage, Delayed skeletal maturation, Developmental cataract, Diffuse cerebellar atrophy, Dry skin, Dysarthria, Dysphonia, Dystrophic fingernails, Ectropion, Eczematoid dermatitis, Enamel hypoplasia, Epicanthus, Esotropia, Fragile nails, Gait ataxia, Generalized hyperreflexia, Generalized hypotonia, Generalized-onset seizure, Global developmental delay, Gonadal dysgenesis, Growth delay, High, narrow palate, Hypertelorism, Hypoplasia of mandible relative to maxilla, Hypoplasia of teeth, Hyporeflexia, Hypotelorism, Ichthyosis, Increased bone mineral density, Increased mean corpuscular hemoglobin concentration, Intellectual disability, Intention tremor, Intrauterine growth retardation, Joint dislocation, Keratoconjunctivitis sicca, Low-set nipples, Macrotia, Macular degeneration, Microcephaly, Microcornea, Microphthalmia, Multiple joint contractures, Myopia, Nail dysplasia, Neutropenia, Numerous pigmented freckles, Nystagmus, Optic atrophy, Osteopenia, Panhypogammaglobulinemia, Paraplegia/paraparesis, Partial agenesis of the corpus callosum, Peripheral neuropathy, Periventricular leukomalacia, Photophobia, Prematurely aged appearance, Protruding ear, Psychomotor retardation, Recurrent bronchopulmonary infections, Recurrent infections, Reduced social reciprocity, Retinal degeneration, Retrognathia, Ridged nail, Severe muscular hypotonia, Short nose, Small nail, Sparse eyelashes, Sparse hair, Sparse scalp hair, Spasticity, Split nail, Squamous cell carcinoma, Strabismus, Thoracic kyphosis, Tiger tail banding, Trichorrhexis nodosa, Umbilical hernia, Ventricular septal defect, Ventriculomegaly, Woolly hair, obsolete Bronchospasm