Abnormality of the tongue, Anteverted nares, Apnea, Arrhythmia, Ataxia, Behavioral abnormality, Bilateral single transverse palmar creases, Brushfield spots, CNS hypomyelination, Cardiomyopathy, Cataract, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Decreased liver function, Depressed nasal bridge, Developmental regression, Dolichocephaly, EEG abnormality, Elevated circulating hepatic transaminase concentration, 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 abnormality, Hearing impairment, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypospadias, Hypotonia, Ichthyosis, Infantile muscular hypotonia, Jaundice, Large face, Large fontanelles, Lissencephaly, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Multiple renal cysts, Muscle weakness, 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, Renal cyst, Respiratory insufficiency, Respiratory tract infection, 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, Visual loss, Wide anterior fontanel, Wide nasal bridge, obsolete Central hypotonia, obsolete External ear malformation

abnormal cerebral cortex morphology, abnormal fatty acids level, abnormal mitochondrial crista morphology, abnormal mitochondrial physiology, abnormal podocyte foot process morphology, abnormal renal glomerulus morphology, aphagia, decreased brain plasmalogen level, increased plasmalogen level, limb grasping, macrovesicular hepatic steatosis, neonatal lethality, complete penetrance, neuron degeneration, oxidative stress, premature death, reduced cerebellar foliation, thin cerebellar molecular layer, thin cerebral cortex