Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the face, Abnormality of the liver, Abnormality of the mitochondrion, Abnormality of the tongue, Adrenal insufficiency, Aminoaciduria, Anteverted nares, Apnea, Areflexia, Arrhythmia, Asthma, Ataxia, Behavioral abnormality, Bilateral single transverse palmar creases, Broad-based gait, Brushfield spots, Camptodactyly, Cardiomyopathy, Cataract, Cleft palate, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Coxa vara, Cryptorchidism, Cubitus valgus, Decreased body weight, Depressed nasal bridge, Developmental cataract, 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 in infancy, Flat face, Flat occiput, Frontal bossing, Generalized amyotrophy, Generalized hypotonia, Glaucoma, Global developmental delay, Growth delay, Hearing impairment, Hepatic failure, Hepatomegaly, High forehead, High palate, High, narrow palate, Hydronephrosis, Hyperreflexia, Hypertelorism, Hypoplasia of the thymus, Hyporeflexia, Hypospadias, Hypotonia, Ichthyosis, Intellectual disability, Intellectual disability, severe, Intrahepatic biliary dysgenesis, Intrauterine growth retardation, Jaundice, Joint contracture of the hand, Large fontanelles, Low-set ears, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Metaphyseal cupping, Metaphyseal irregularity, Metatarsus adductus, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Muscle weakness, Nyctalopia, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic nerve dysplasia, Palpebral edema, Peripheral neuropathy, Pes cavus, Pigmentary retinopathy, Polar cataract, Polycystic kidney dysplasia, Polymicrogyria, Poor suck, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Prominent forehead, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Respiratory insufficiency, Rod-cone dystrophy, Seizure, Sensorineural hearing impairment, Sensory neuropathy, Severe global developmental delay, Severe muscular hypotonia, Short femoral neck, Short stature, Single transverse palmar crease, Sinus tachycardia, Skeletal dysplasia, Spasticity, Stippled chondral calcification, Strabismus, Talipes equinovarus, Thickened nuchal skin fold, Thoracic scoliosis, Turricephaly, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Vertical nystagmus, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge, obsolete External ear malformation

abnormal kidney morphology, abnormal lysosome morphology, abnormal mitochondrial ATP synthesis coupled electron transport, abnormal mitochondrial crista morphology, abnormal mitochondrial inner membrane morphology, abnormal postnatal growth, abnormal respiratory electron transport chain, abnormal seminiferous tubule morphology, decreased testis weight, delayed brain development, delayed intestine development, delayed kidney development, embryonic growth retardation, hindlimb paralysis, hindlimb paresis, increased circulating lactate level, increased liver tumor incidence, liver hyperplasia, liver/biliary system phenotype, microgliosis, postnatal lethality, complete penetrance, premature death, seminiferous tubule degeneration, slow postnatal weight gain