Bipolar affective disorder, Broad nasal tip, Cerebral atrophy, Cerebral cortical atrophy, Cerebral visual impairment, Chorea, Clinodactyly of the 2nd toe, Coarse facial features, Compulsive behaviors, Cryptorchidism, Delayed eruption of teeth, Delayed myelination, Delayed speech and language development, Depressed nasal bridge, Depression, Downslanted palpebral fissures, Drooling, EEG with focal spikes, Epileptic encephalopathy, Facial palsy, Feeding difficulties, Focal impaired awareness seizure, Focal tonic seizure, Gastroesophageal reflux, Generalized hypotonia, Generalized non-motor (absence) seizure, Global developmental delay, Hyperactivity, Hypoplasia of the corpus callosum, Infantile muscular hypotonia, Infantile spasms, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, profound, Intellectual disability, severe, Long face, Long palpebral fissure, Long philtrum, Lower limb spasticity, Macrocephaly, Mandibular prognathia, Meckel diverticulum, Microcephaly, Midface retrusion, Mild neurosensory hearing impairment, Moderate sensorineural hearing impairment, Myoclonus, Obesity, Periorbital fullness, Periventricular leukomalacia, Pes planus, Pointed chin, Poor speech, Progressive cerebellar ataxia, Pyloric stenosis, Scoliosis, Seizure, Self-injurious behavior, Shortening of all distal phalanges of the fingers, Small for gestational age, Strabismus, Thick lower lip vermilion, Thin upper lip vermilion, Unsteady gait, Upper limb spasticity, Urinary incontinence, Ventriculomegaly, Widened subarachnoid space