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