VPS13D

vacuolar protein sorting 13 homolog D
OMIM: 608877
PanelMode of inheritanceDetails
3 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 4, 607317
R-numbers: R57
Signed-off version 1.58
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 4, 607317
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia 4, 608877, Spinocerebellar ataxia, autosomal recessive 4, 607317