Cerebellar Atrophy with Seizures and Variable Developmental Delay (CASVDD)

Cerebellar Atrophy with Seizures and Variable Developmental Delay, also known as casvdd, is related to early infantile epileptic encephalopathy and developmental and epileptic encephalopathy. An important gene associated with Cerebellar Atrophy with Seizures and Variable Developmental Delay is CACNA2D2 (Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 2). Affiliated tissues include brain and eye, and related phenotypes are seizure and absent speech