Abnormality of the face, Abnormality of the liver, Abnormality of the orbital region, Abnormality of the tongue, Anteverted nares, Arrhythmia, Ataxia, Behavioral abnormality, Bilateral single transverse palmar creases, Brushfield spots, Cardiomyopathy, Cataract, Cholestasis, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Delayed closure of the anterior fontanelle, Depressed nasal bridge, Developmental regression, Dolichocephaly, EEG abnormality, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, Facial palsy, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Glaucoma, Global developmental delay, Hearing impairment, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypospadias, Hypotonia, Ichthyosis, Jaundice, Large fontanelles, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, 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, Rod-cone dystrophy, Seizure, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spasticity, Strabismus, Thickened nuchal skin fold, Triangular face, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge, obsolete Central hypotonia, obsolete External ear malformation