Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the face, Abnormality of the liver, Abnormality of the tongue, Adrenal hypoplasia, Adrenal insufficiency, Albuminuria, Aminoaciduria, Anteverted nares, Aplasia/Hypoplasia of the corpus callosum, Areflexia, Arrhythmia, Ataxia, Behavioral abnormality, Bell-shaped thorax, Bilateral single transverse palmar creases, Brachyturricephaly, Breech presentation, Brushfield spots, Cardiomyopathy, Cataract, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Cubitus valgus, Decreased liver function, Delayed skeletal maturation, Depressed nasal bridge, Depressed nasal ridge, Developmental regression, Dolichocephaly, EEG abnormality, Elevated circulating long chain fatty acid concentration, Elevated levels of phytanic acid, Epicanthus, Epiphyseal stippling, Esotropia, Facial palsy, Failure to thrive, Feeding difficulties, Feeding difficulties in infancy, Flat face, Flat occiput, Frontal bossing, Generalized hypotonia, Generalized neonatal hypotonia, Glaucoma, Global developmental delay, Gray matter heterotopia, Hearing impairment, Hepatic failure, Hepatomegaly, High forehead, High palate, High, narrow palate, Hydronephrosis, Hyperreflexia, Hypertelorism, Hypocholesterolemia, Hypoplastic olfactory lobes, Hyporeflexia, Hypospadias, Hypotonia, Ichthyosis, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intrahepatic biliary dysgenesis, Jaundice, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Malabsorption, Malar flattening, Metatarsus adductus, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Neonatal hypotonia, Nyctalopia, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic disc pallor, Osteoporosis, Patent ductus arteriosus, Pigmentary retinopathy, Polar cataract, Polymicrogyria, Polyneuropathy, Posterior embryotoxon, Posteriorly rotated ears, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Prolonged neonatal jaundice, Prominent forehead, Protruding tongue, Ptosis, Pulmonary hypoplasia, Pyloric stenosis, Reduced tendon reflexes, Redundant neck skin, Renal cortical microcysts, Respiratory insufficiency, Retinal dystrophy, Rocker bottom foot, Rod-cone dystrophy, Round face, Seizure, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Single transverse palmar crease, Skeletal dysplasia, Spasticity, Steatorrhea, Strabismus, Subependymal cysts, Talipes equinovarus, Thickened nuchal skin fold, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge, Widely patent fontanelles and sutures, obsolete External ear malformation