Athetosis, Atonic seizure, Axonal loss, Bilateral ptosis, Brachycephaly, Central sleep apnea, Cerebellar atrophy, Cerebral atrophy, Chorea, Chronic constipation, Cone/cone-rod dystrophy, Congenital hip dislocation, Corneal neovascularization, Corneal opacity, Corneal scarring, Corneal ulceration, Coxa valga, Decreased CSF 5-hydroxyindolacetic acid, Decreased CSF albumin concentration, Decreased CSF biopterin level, Decreased CSF homovanillic acid concentration, Decreased CSF protein, Decreased CSF/serum albumin ratio, Decreased LDL cholesterol concentration, Decreased body weight, Decreased lacrimation, Decreased resting energy expenditure, Decreased sensory nerve conduction velocity, Delayed ability to sit, Delayed myelination, Delayed skeletal maturation, Developmental regression, Dilation of Virchow-Robin spaces, Dysmetria, Dystonia, EEG abnormality, Elevated alpha-fetoprotein, Elevated brain choline level by MRS, Elevated circulating hepatic transaminase concentration, Exotropia, Facial hypotonia, Failure to thrive, Fatigable weakness of speech muscles, Fever, Focal emotional seizure with laughing, Focal tonic seizure, Generalized aminoaciduria, Generalized hypotonia, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Gliosis, Global developmental delay, Hepatomegaly, High myoinositol in brain by MRS, Hip dysplasia, Hyperhidrosis, Hyperkinetic movements, Hypertelorism, Hypofibrinogenemia, Hyporeflexia, Hypotonia, Hypotriglyceridemia, Impaired oral bolus formation, Impaired oropharyngeal swallow response, Inability to walk, Increased circulating lactate concentration, Increased susceptibility to fractures, Infantile spasms, Intellectual disability, Intellectual disability, profound, Intrinsic hand muscle atrophy, Involuntary movements, Joint hypermobility, Lagopthalmos, Limb joint contracture, Lingual dystonia, Microcephaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Myoclonus, Narrow face, Nodular regenerative hyperplasia of liver, Obstructive sleep apnea, Oculomotor apraxia, Optic atrophy, Optic disc pallor, Oral-pharyngeal dysphagia, Osteoporosis, Pain, Pain insensitivity, Peripheral neuropathy, Pigmentary retinopathy, Polyneuropathy, Poor head control, Poor speech, Prolonged prothrombin time, Ptosis, Recurrent respiratory infections, Reduced bone mineral density, Reduced brain N-acetyl aspartate level by MRS, Reduced brain glutamine level by MRS, Reduced factor XI activity, Reduced protein C activity, Respiratory distress, Restlessness, Sclerosis of finger phalanx, Scoliosis, Secondary microcephaly, Seizure, Sensorimotor neuropathy, Short foot, Shoulder dislocation, Single transverse palmar crease, Small for gestational age, Small hand, Splenomegaly, Staring gaze, Strabismus, Suck reflex, Sunken cheeks, Tarsal sclerosis, Ventriculomegaly