Abnormality of retinal pigmentation, Abnormality of the face, Abnormality of the liver, Abnormality of the tongue, Anteverted nares, Areflexia, Arrhythmia, Ataxia, Behavioral abnormality, Bilateral single transverse palmar creases, Brushfield spots, Cardiomyopathy, Cataract, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Depressed nasal bridge, Depressed nasal ridge, Developmental regression, Dolichocephaly, EEG abnormality, 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, Hearing impairment, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypocholesterolemia, Hyporeflexia, Hypospadias, Hypotonia, Ichthyosis, Intellectual disability, Jaundice, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Malar flattening, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Nyctalopia, Nystagmus, Optic atrophy, Osteoporosis, Polycystic kidney dysplasia, Polymicrogyria, Polyneuropathy, 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, Single transverse palmar crease, Skeletal dysplasia, Spasticity, Steatorrhea, Strabismus, Thickened nuchal skin fold, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Vascular dilatation, Ventricular septal defect, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge, obsolete External ear malformation