UCHL1

ubiquitin C-terminal hydrolase L1
OMIM: 191342
PanelMode of inheritanceDetails
3 panels
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early onset ataxia and optic neuropathy, Autosomal recessive spastic paraplegia 79, 615491
R-numbers: R60
Signed-off version 1.27
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 79, autosomal recessive, OMIM:615491
R-numbers: R61
Signed-off version 2.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 79, autosomal recessive, 615491, AR