Abnormal toenail morphology, Abnormality of coagulation, Abnormality of epiphysis morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of nail color, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the dentition, Abnormality of the face, Abnormality of the liver, Abnormality of the tongue, Acanthosis nigricans, Adrenal hypoplasia, Albuminuria, Amelogenesis imperfecta, 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, Camptodactyly of finger, Cardiomyopathy, Cataract, Cerebral calcification, Cirrhosis, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Convex nasal ridge, Corneal opacity, Cryptorchidism, Cubitus valgus, Delayed skeletal maturation, Delayed speech and language development, Depressed nasal bridge, Developmental regression, Diabetes mellitus, Dolichocephaly, EEG abnormality, Elevated circulating long chain fatty acid concentration, Elevated levels of phytanic acid, Enamel hypoplasia, Epicanthus, Epiphyseal stippling, External genital hypoplasia, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Generalized hypotonia, Glaucoma, Global developmental delay, Gray matter heterotopia, Hearing impairment, Hepatic failure, Hepatic fibrosis, Hepatomegaly, High anterior hairline, High forehead, High palate, High, narrow palate, Hydronephrosis, Hyperoxaluria, Hyperreflexia, Hypertelorism, Hypogonadism, Hypoplastic olfactory lobes, Hyporeflexia, Hypospadias, Hypotonia, Ichthyosis, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Intrahepatic biliary dysgenesis, Jaundice, Large hands, Leukodystrophy, Leukonychia, Low-set, posteriorly rotated ears, Macrocephaly, Macroglossia, Macular dystrophy, Malabsorption, Malar flattening, Metatarsus adductus, Microcephaly, Micrognathia, Midface retrusion, Multicystic kidney dysplasia, Muscle flaccidity, Neonatal hypotonia, Nyctalopia, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic disc pallor, Patent ductus arteriosus, Peripheral neuropathy, Pigmentary retinopathy, Pili torti, Polymicrogyria, Posterior embryotoxon, Posteriorly rotated ears, Premature birth, Primary adrenal insufficiency, Primary amenorrhea, Profound global developmental delay, Progressive muscle weakness, Prolonged neonatal jaundice, Protruding tongue, Psychomotor retardation, Ptosis, Pulmonary hypoplasia, Pyloric stenosis, Reduced tendon reflexes, Redundant neck skin, Renal cortical microcysts, Renal cyst, Respiratory insufficiency, Rocker bottom foot, Rod-cone dystrophy, Round face, Seizure, Sensorineural hearing impairment, Sensory neuropathy, Severe global developmental delay, Severe muscular hypotonia, Short stature, Single transverse palmar crease, Skeletal dysplasia, Spasticity, Strabismus, Subependymal cysts, Talipes equinovarus, Taurodontia, Thickened nuchal skin fold, Thin eyebrow, 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

abnormal venous thrombosis, decreased body size, decreased fatty acids level, decreased liver glycogen level, decreased survivor rate, dilated mitochondria, increased fatty acids level, increased liver adenoma incidence, increased liver cholesterol level, increased liver triglyceride level, increased saturated fatty acids level, lethality during fetal growth through weaning, incomplete penetrance, microvesicular hepatic steatosis, phlebitis, postnatal lethality, incomplete penetrance, premature death, reproductive system phenotype, retina cone cell degeneration, weakness