Delayed eruption of teeth, Delayed speech and language development, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Drooling, Facial palsy, Generalized hypotonia, Generalized non-motor (absence) seizure, Global developmental delay, Horizontal nystagmus, Hyperkinetic movements, Hypermetropia, Hypotonia, Inappropriate crying, Intellectual disability, Intellectual disability, moderate, Intellectual disability, profound, Intellectual disability, severe, Long palpebral fissure, Long philtrum, Macrocephaly, Macrotia, Meckel diverticulum, Micrognathia, Midface retrusion, Mild neurosensory hearing impairment, Moderate sensorineural hearing impairment, Obesity, Periorbital fullness, Pes planus, Poor speech, Progressive microcephaly, Pyloric stenosis, Secondary microcephaly, Seizure, Self-injurious behavior, Shortening of all distal phalanges of the fingers, Small for gestational age, Stereotypical hand wringing, Strabismus, Thick lower lip vermilion, Thin upper lip vermilion, Urinary incontinence, Widened subarachnoid space, obsolete Impaired social interactions

behavior/neurological phenotype, convulsive seizures, decreased grip strength, decreased susceptibility to induction of seizure by inducing agent, decreased susceptibility to pharmacologically induced seizures, decreased vocalization, impaired spatial learning, increased anxiety-related response, increased dentate gyrus size, increased exploration in new environment, increased hippocampus volume, premature death, social withdrawal, sporadic seizures