Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay (CHEGDD)

Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay, also known as chegdd, is related to cerebellar hypoplasia and microcephaly. An important gene associated with Cerebellar Hypoplasia/atrophy, Epilepsy, and Global Developmental Delay is OXR1 (Oxidation Resistance 1), and among its related pathways/superpathways are Tumor suppressor activity of SMARCB1 and RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known. Affiliated tissues include brain and cerebellum, and related phenotypes are intellectual disability and seizure