Human (53 sources):
Absent thumbnail,
Anteverted nares,
Atonic seizure,
Autistic behavior,
Bilateral tonic-clonic seizure,
Broad finger,
Broad phalanx of the toes,
Cerebellar atrophy,
Choreoathetosis,
Cleft palate,
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
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These phenotypes are associated with this gene with a has phenotype relation via Monarch.