STUB1

STIP1 homology and U-box containing protein 1
OMIM: 607207
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 16, Spinocerebellar ataxia, autosomal recessive 16 615768
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia type 16, 615768, Spinocerebellar ataxia, autosomal recessive 16