Broad phalanx of the toes, Cerebellar atrophy, Choreoathetosis, Cleft palate, Cognitive impairment, Delayed myelination, Depressed nasal bridge, Developmental regression, Diffuse cerebral atrophy, Diffuse white matter abnormalities, Distal lower limb muscle weakness, Dysarthria, Dyscalculia, Dyskinesia, Dyslexia, Dystonia, EEG abnormality, EEG with burst suppression, EEG with spike-wave complexes, Epileptic encephalopathy, Episodic ataxia, Failure to thrive, Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Generalized hypotonia, Generalized non-motor (absence) seizure, Generalized tonic seizure, Global developmental delay, Hyperactivity, Hypoplasia of the corpus callosum, Hyporeflexia, Hypotonia, Hypsarrhythmia, Infantile muscular hypotonia, Infantile spasms, Intellectual disability, Intellectual disability, severe, Kyphoscoliosis, Microcephaly, Micropenis, Motor delay, Muscular dystrophy, Myoclonus, Obesity, Oculomotor apraxia, Pachygyria, Peripheral neuropathy, Pes cavus, Poor head control, Postural instability, Precocious puberty, Progressive distal muscular atrophy, Progressive microcephaly, Renal dysplasia, Seizure, Self-injurious behavior, Sensorimotor neuropathy, Short attention span, Short finger, Simplified gyral pattern, Skeletal muscle atrophy, Sleep disturbance, Sloping forehead, Somatic sensory dysfunction, Spasticity, Strabismus, Tetraplegia, Tremor, Umbilical hernia, Uni- and bilateral multifocal epileptiform discharges, Ureterocele, Ventricular septal defect, Ventriculomegaly, obsolete Focal seizures, afebril

increased brain apoptosis, postnatal lethality, complete penetrance, small cerebellum