Congenital cerebellar ataxia
Disease Term | Disease ID | Gene Symbol | References |
---|---|---|---|
Congenital cerebellar ataxia | C0852975 | GRM1 | |
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | 324262 | GRM1 | |
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency | 363432 | GRID2 | |
Congenital cerebellar ataxia due to RNU12 mutation | 512260 | RNU12 |