Anteverted nares, Ataxia, Attention deficit hyperactivity disorder, Atypical scarring of skin, Autism, Axial hypotonia, Behavioral abnormality, Bilateral tonic-clonic seizure, Blindness, Bradykinesia, Brain atrophy, Cataract, Cerebral atrophy, Chiari type I malformation, Conductive hearing impairment, Constriction of peripheral visual field, Cryptorchidism, Cystoid macular edema, Decreased fetal movement, Delayed speech and language development, Developmental regression, Difficulty walking, Downslanted palpebral fissures, Dyskinesia, Dystonia, EEG abnormality, EEG with multifocal slow activity, Elevated circulating hepatic transaminase concentration, Encephalopathy, Epileptic encephalopathy, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Generalized myoclonic seizure, Glaucoma, Global developmental delay, Hepatomegaly, High forehead, Hyperinsulinemia, Hyperreflexia, Hypodontia, Hypogonadism, Hypoplasia of penis, Hyporeflexia, Hypsarrhythmia, Impulsivity, Intellectual disability, Intrauterine growth retardation, Involuntary movements, Keratoconus, Limb hypertonia, Mental deterioration, Microcephaly, Micropenis, Myoclonic absence seizure, Myoclonus, Nyctalopia, Nystagmus, Obesity, Ophthalmoplegia, Optic atrophy, Photophobia, Poor head control, Progressive night blindness, Ptosis, Reduced tendon reflexes, Renal insufficiency, Retinal degeneration, Rigidity, Rod-cone dystrophy, Seizure, Sensorineural hearing impairment, Short stature, Spasticity, Status epilepticus, Tremor, Type II diabetes mellitus, Unsteady gait, Visual impairment, Wide nasal bridge