Brittle hair, Broad-based gait, Cardiomyopathy, Carious teeth, Cerebral cortical atrophy, Cerebral dysmyelination, Clubbing, Coarse facial features, Concave nail, Congenital exfoliative erythroderma, Conjunctivitis, Coronal craniosynostosis, Coxa valga, Craniosynostosis, Cryptorchidism, Cutaneous photosensitivity, 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, High, narrow palate, Hypertelorism, Hypoplasia of mandible relative to maxilla, Hyporeflexia, Hypotelorism, Ichthyosis, Increased bone mineral density, Increased mean corpuscular hemoglobin concentration, Intellectual disability, moderate, Intention tremor, Intrauterine growth retardation, Joint dislocation, Keratoconjunctivitis sicca, Long-tract signs, Low-set nipples, Macular degeneration, Microcephaly, Microcornea, Mild intrauterine growth retardation, Motor delay, Multiple joint contractures, Myopia, Neutropenia, Numerous pigmented freckles, Nystagmus, Osteopenia, Panhypogammaglobulinemia, Paraplegia/paraparesis, Partial agenesis of the corpus callosum, Peripheral neuropathy, Periventricular leukomalacia, Pes cavus, Photophobia, Prematurely aged appearance, Protruding ear, Psychomotor retardation, Recurrent bronchopulmonary infections, Recurrent infections, Reduced social reciprocity, Retinal degeneration, Retrognathia, Ridged nail, Short stature, Slow-growing hair, Small for gestational age, Sparse scalp hair, Spasticity, Split nail, Squamous cell carcinoma, Strabismus, Thoracic kyphosis, Tiger tail banding, Umbilical hernia, Ventricular septal defect, Ventriculomegaly, obsolete Bronchospasm