Abnormality of the tongue, Anteverted nares, Arrhythmia, Ataxia, Behavioral abnormality, Bilateral single transverse palmar creases, Brushfield spots, Cardiomyopathy, Cataract, Cerebellar vermis atrophy, Clitoral hypertrophy, Cognitive impairment, Constipation, Constriction of peripheral visual field, Corneal opacity, Corpus callosum atrophy, Cryptorchidism, Decreased liver function, Depressed nasal bridge, Developmental regression, Dolichocephaly, Dysarthria, Dysmetria, Dysphagia, EEG abnormality, Elevated circulating aspartate aminotransferase concentration, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Generalized neonatal hypotonia, Glaucoma, Global developmental delay, Glossoptosis, Hearing impairment, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypospadias, Hypotonia, Ichthyosis, Jaundice, Leukodystrophy, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Neonatal hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Polymicrogyria, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Respiratory insufficiency, Retinal dystrophy, Rod-cone dystrophy, Seizure, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spastic paraparesis, Spasticity, Strabismus, Thickened nuchal skin fold, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge, obsolete External ear malformation