Congenital cerebellar ataxia due to RNU12 mutation

Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)

active

Code	`1177169004`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20211031

Synonyms

Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation

Parents (6)

85995004Autosomal recessive hereditary disorder disorder
85102008Cerebellar ataxia disorder
16026008Congenital cerebellar hypoplasia disorder
363070008Developmental hereditary disorder disorder
1362108000Genetic intellectual disability disorder
763597000Hereditary ataxia disorder

Children (0)

None (leaf concept).