Cerebellar ataxia, brain abnormalities, and cardiac conduction defects

Disease Term Disease ID Gene Symbol Classification References Source
CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
619576C5562005MONDO:0859200
EXOSC5 Causal
29302074 30950035 32504085
ClinVar Disgenet GWAS catalog HPO