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, Camptodactyly, Cardiomyopathy, Cataract, Cerebellar atrophy, Cleft palate, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Cubitus valgus, Decreased liver function, Depressed nasal bridge, Developmental regression, Difficulty running, Dolichocephaly, Dysarthria, Dysmetria, 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, Hepatosplenomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypertelorism, Hyporeflexia, Hypospadias, Hypotonia, Ichthyosis, Intellectual disability, Intrahepatic biliary dysgenesis, Intrauterine growth retardation, Jaundice, Large fontanelles, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Metatarsus adductus, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Neonatal hypotonia, Nyctalopia, Nystagmus, Oculomotor apraxia, Opacification of the corneal stroma, Optic atrophy, Optic nerve dysplasia, Palpebral edema, Pes cavus, Pigmentary retinopathy, Polymicrogyria, Poor suck, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Renal cortical microcysts, Renal cyst, Respiratory insufficiency, Retinal dystrophy, Rod-cone dystrophy, Round face, Seizure, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Single transverse palmar crease, Skeletal dysplasia, Slow saccadic eye movements, Spasticity, Splenomegaly, Stippled chondral calcification, Strabismus, Talipes equinovarus, Thickened nuchal skin fold, Tremor, Underdeveloped supraorbital ridges, Unsteady gait, Upslanted palpebral fissure, Ventricular septal defect, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge, obsolete External ear malformation, obsolete Macrogyria

abnormal motor capabilities/coordination/movement, abnormal neurocranium morphology, abnormal stratification in cerebral cortex, aphagia, behavior/neurological phenotype, decreased bone mineralization, decreased brain size, decreased cholesterol level, decreased embryo weight, decreased liver cholesterol level, decreased locomotor activity, delayed intramembranous bone ossification, impaired balance, limb grasping, neonatal lethality, incomplete penetrance, postnatal lethality, complete penetrance, small cerebellum, trunk curl