Autistic behavior, Babinski sign, Bilateral tonic-clonic seizure, Broad nasal tip, Cerebral atrophy, Clinodactyly of the 2nd toe, Clumsiness, Cognitive impairment, Decreased body weight, Delayed eruption of teeth, Delayed myelination, Delayed speech and language development, Depressed nasal bridge, Downslanted palpebral fissures, Drooling, Facial palsy, Flexion contracture, Generalized hypotonia, Generalized non-motor (absence) seizure, Global brain atrophy, Global developmental delay, Hepatomegaly, Horizontal nystagmus, Hydrocephalus, Hypertelorism, Hypotonia, Hypsarrhythmia, Infantile spasms, Intellectual disability, moderate, Intellectual disability, profound, Intellectual disability, severe, Long palpebral fissure, Long philtrum, Low-set ears, Macrocephaly, Meckel diverticulum, Microcephaly, Midface retrusion, Mild neurosensory hearing impairment, Moderate sensorineural hearing impairment, Nystagmus, Obesity, Optic atrophy, Periorbital fullness, Pes planus, Poor eye contact, Poor head control, Poor speech, Pyloric stenosis, Recurrent infections, Seizure, Short chin, Shortening of all distal phalanges of the fingers, Small for gestational age, Thick lower lip vermilion, Thin upper lip vermilion, Type I transferrin isoform profile, Urinary incontinence, Widened subarachnoid space

increased susceptibility to pharmacologically induced seizures, increased total body fat amount, loss of hippocampal neurons