Bilateral tonic-clonic seizure, Broad finger, Broad forehead, Broad phalanx of the toes, Camptodactyly of finger, Cerebellar atrophy, Cerebral cortical atrophy, Cerebral visual impairment, Choreoathetosis, Cleft palate, Clinodactyly of the 5th finger, Constipation, Deeply set eye, Delayed myelination, Depressed nasal bridge, Developmental regression, Diffuse cerebral atrophy, Diffuse white matter abnormalities, Dyskinesia, Dystonia, EEG abnormality, EEG with burst suppression, EEG with generalized slow activity, EEG with spike-wave complexes, Epileptic encephalopathy, Epileptic spasm, Episodic ataxia, Failure to thrive, Febrile seizure (within the age range of 3 months to 6 years), Fine hair, Gastroesophageal reflux, Generalized clonic seizure, Generalized hypotonia, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Generalized tonic seizure, Generalized-onset seizure, Global developmental delay, Hearing impairment, Hyperactivity, Hyperventilation, Hypoplasia of the corpus callosum, Hypotonia, Hypsarrhythmia, Inability to walk, Infantile muscular hypotonia, Infantile spasms, Intellectual disability, Intellectual disability, profound, Long philtrum, Microcephaly, Micropenis, Motor stereotypy, Multifocal seizures, Myoclonus, Nephrolithiasis, Pachygyria, Poor eye contact, Poor head control, Precocious puberty, Progressive microcephaly, Prominent forehead, Renal dysplasia, Scoliosis, Seizure, Self-injurious behavior, Short finger, Short foot, Short palm, Sleep disturbance, Sloping forehead, Small hand, Spasticity, Strabismus, Tapered finger, Thick lower lip vermilion, Thick vermilion border, Tremor, Umbilical hernia, Underdeveloped nasal alae, Uni- and bilateral multifocal epileptiform discharges, Ureterocele, Ventricular septal defect, Ventriculomegaly, Wide mouth, Wide nose, obsolete Abnormality of the metacarpal bones, obsolete Focal seizures, afebril

nervous system phenotype, social withdrawal, taste/olfaction phenotype, thin cerebral cortex, thin hippocampus molecular cell layer, thin hippocampus stratum oriens