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 insufficiency, Anteverted nares, Arrhythmia, Ataxia, Behavioral abnormality, Bilateral single transverse palmar creases, Blindness, Brushfield spots, Camptodactyly of finger, Cardiomyopathy, Cataract, Cerebral calcification, Clitoral hypertrophy, Cochlear degeneration, Cognitive impairment, Conjunctival telangiectasia, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Decreased liver function, Decreased nerve conduction velocity, Delayed skeletal maturation, Dental crowding, Depressed nasal bridge, Developmental regression, Diabetes mellitus, Difficulty walking, Dolichocephaly, EEG abnormality, Elevated alpha-fetoprotein, Elevated levels of phytanic acid, Epicanthus, Epicanthus inversus, Epiphyseal stippling, External ear malformation, External genital hypoplasia, Facial palsy, Failure to thrive, Feeding difficulties in infancy, Flat face, Flat occiput, Gait ataxia, Gait disturbance, Generalized hypotonia, Generalized neonatal hypotonia, Glaucoma, Global developmental delay, Head tremor, Hearing impairment, Hepatic failure, Hepatomegaly, High anterior hairline, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypertelorism, Hypogonadism, Hyporeflexia, Hypospadias, Hypotonia, Ichthyosis, Impaired vibration sensation in the lower limbs, Intellectual disability, Jaundice, Large hands, Leukonychia, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Mildly elevated creatine kinase, Multicystic kidney dysplasia, Muscle flaccidity, Neonatal hypotonia, Nyctalopia, Nystagmus, Optic atrophy, Peripheral neuropathy, Pes planus, Pili torti, Polymicrogyria, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Primary amenorrhea, Profound global developmental delay, Progressive cerebellar ataxia, Progressive muscle weakness, Proximal amyotrophy, Ptosis, Pyloric stenosis, Recurrent fever, Reduced tendon reflexes, Renal cyst, Respiratory insufficiency, Retinal dystrophy, Rod-cone dystrophy, Round face, Seizure, Sensorimotor neuropathy, Sensorineural hearing impairment, Sensory neuropathy, Severe global developmental delay, Severe muscular hypotonia, Short nose, Short stature, Single transverse palmar crease, Skeletal dysplasia, Spastic dysarthria, Spasticity, Spinocerebellar atrophy, Strabismus, Taurodontia, Thickened nuchal skin fold, Thin eyebrow, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ureterocele, Ventricular septal defect, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge