Delayed myelination, Depressed nasal bridge, Developmental regression, Diffuse cerebral atrophy, Diffuse white matter abnormalities, Dyskinesia, Dystonia, EEG abnormality, EEG with burst suppression, EEG with spike-wave complexes, Episodic ataxia, Failure to thrive, Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Generalized non-motor (absence) seizure, Generalized tonic seizure, Global developmental delay, Hyperactivity, Hypoplasia of the corpus callosum, Hypsarrhythmia, Infantile muscular hypotonia, Infantile spasms, Intellectual disability, Microcephaly, Micropenis, Myoclonus, Pachygyria, Poor head control, Precocious puberty, Renal dysplasia, Seizure, Self-injurious behavior, Short finger, Sleep disturbance, Sloping forehead, Spasticity, Strabismus, Tremor, Umbilical hernia, Uni- and bilateral multifocal epileptiform discharges, Ureterocele, Ventricular septal defect, obsolete Focal seizures, afebril

abnormal optic vesicle formation, abnormal otic vesicle morphology, abnormal pericardium morphology, abnormal retina inner nuclear layer morphology, abnormal retina vasculature morphology, abnormal somite shape, abnormal tail bud morphology, abnormal visceral yolk sac morphology, abnormal vitelline vasculature morphology, decreased total retina thickness, embryonic lethality prior to tooth bud stage, preweaning lethality, complete penetrance