ADPRHL2

ADP-ribosylhydrolase like 2
OMIM: 610624
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, cerebellar atrophy, ataxia and epilepsy
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170