This alteration in CACNA2D2, CYB561D2, LOC101928965, LOC127898564 (calcium voltage-gated channel auxiliary subunit alpha2delta 2| cytochrome b561 family member D2| uncharacterized LOC101928965| CYB561D2-LOC101928965) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Cerebellar atrophy with seizures and variable developmental delay