CWF19L1

CWF19 like 1, cell cycle control (S. pombe)
OMIM: 616120
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 17, 616127
R-numbers: R54
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 17, 616127, Autosomal recessive spinocerebellar ataxia type 17, 616127
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 17, 616127, intellectual disability, developmental delay