DISEASE: Cerebellar atrophy with seizures and variable developmental delay
Entry
H02645 Disease
Name
Cerebellar atrophy with seizures and variable developmental delay
Description
Cerebellar atrophy with seizures and variable developmental delay (CASVDD) is an early-onset epileptic encephalopathy. This disease is caused by mutations in CACNA2D2 that encodes an auxiliary subunit of the voltage-dependent calcium channel.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD20 Syndromes with central nervous system anomalies as a major feature
H02645 Cerebellar atrophy with seizures and variable developmental delay
