Abnormality of the tongue, Anteverted nares, Areflexia, Arrhythmia, Ataxia, Behavioral abnormality, Bilateral single transverse palmar creases, Broad forehead, Brushfield spots, Cardiomyopathy, Cataract, Clitoral hypertrophy, Cognitive impairment, Constriction of peripheral visual field, Corneal opacity, Cryptorchidism, Decreased fetal movement, Depressed nasal bridge, Developmental regression, Dolichocephaly, Downslanted palpebral fissures, EEG abnormality, 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, Generalized neonatal hypotonia, Glaucoma, Global developmental delay, Hearing impairment, Hepatic failure, Hepatomegaly, High forehead, High palate, Hydronephrosis, Hyperreflexia, Hypertelorism, Hypospadias, Hypotonia, Ichthyosis, Jaundice, Low-set, posteriorly rotated ears, Macrocephaly, Malabsorption, Microcephaly, Micrognathia, Multicystic kidney dysplasia, Nyctalopia, Nystagmus, Optic atrophy, Polymicrogyria, Posterior embryotoxon, Premature birth, Primary adrenal insufficiency, Profound global developmental delay, Progressive muscle weakness, Prominent nose, Ptosis, Pyloric stenosis, Reduced tendon reflexes, Respiratory insufficiency, Rod-cone dystrophy, Seizure, Sensorineural hearing impairment, Severe global developmental delay, Severe muscular hypotonia, Short stature, Skeletal dysplasia, Spasticity, Strabismus, Thickened nuchal skin fold, Underdeveloped supraorbital ridges, Upslanted palpebral fissure, Ventricular septal defect, Very long chain fatty acid accumulation, Visual impairment, Wide anterior fontanel, Wide nasal bridge, obsolete External ear malformation

increased circulating fructosamine level, increased mean corpuscular hemoglobin, increased sacral vertebrae number, small sebaceous gland