Absent speech, Absent thumbnail, Anteverted nares, Aplasia/Hypoplasia of the cerebellum, Ataxia, Atonic seizure, Attention deficit hyperactivity disorder, Atypical absence status epilepticus, Autism, Autistic behavior, Behavioral abnormality, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Brain atrophy, Broad finger, Broad phalanx of the toes, Camptodactyly of finger, Cerebellar atrophy, Cerebral atrophy, Cerebral cortical atrophy, Cerebral hypomyelination, Cerebral visual impairment, Choreoathetosis, Cleft palate, Clinodactyly of the 5th finger, Cutaneous photosensitivity, Decreased fetal movement, Delayed myelination, Delayed speech and language development, Depressed nasal bridge, Developmental regression, Difficulty walking, Diffuse cerebral atrophy, Diffuse white matter abnormalities, Downslanted palpebral fissures, Dyskinesia, Dystonia, EEG abnormality, EEG with burst suppression, EEG with multifocal slow activity, EEG with spike-wave complexes, Encephalopathy, Epileptic encephalopathy, Epileptic spasm, Episodic ataxia, Failure to thrive, Febrile seizure (within the age range of 3 months to 6 years), Feeding difficulties, Fine hair, Focal clonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, 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, High forehead, Hyperactivity, Hypodontia, Hypoplasia of the corpus callosum, Hyporeflexia, Hypotonia, Hypsarrhythmia, Impaired horizontal smooth pursuit, Impulsivity, Infantile encephalopathy, Infantile muscular hypotonia, Infantile spasms, Intellectual disability, Intellectual disability, severe, Involuntary movements, Limb hypertonia, Long philtrum, Mental deterioration, Microcephaly, Micropenis, Motor delay, Myoclonus, Nephrolithiasis, Neurodevelopmental delay, Nystagmus, Optic atrophy, Pachygyria, Poor head control, Precocious puberty, Psychomotor retardation, Ptosis, Reduced tendon reflexes, Renal dysplasia, Retinal degeneration, Rigidity, Secondary microcephaly, Seizure, Self-injurious behavior, Severe global developmental delay, Short finger, Short stature, Sleep disturbance, Sloping forehead, Spastic paraplegia, Spastic tetraplegia, Spasticity, Status epilepticus, Strabismus, Thick vermilion border, Tremor, Umbilical hernia, Underdeveloped nasal alae, Uni- and bilateral multifocal epileptiform discharges, Unsteady gait, Ureterocele, Ventricular septal defect, Ventriculomegaly, Wide mouth, Wide nose, obsolete Abnormality of the metacarpal bones, obsolete Focal seizures, afebril

nervous system phenotype, neuron degeneration, preweaning lethality, complete penetrance