KDSR

3-ketodihydrosphingosine reductase
OMIM: 136440
PanelMode of inheritanceDetails
3 panels
R-numbers: R90
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
(NO OMIM NUMBER OR DISEASE), Recessive severe thrombocytopenia with progression to marrow fibrosis at young age
R-numbers: R165
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Erythrokeratodermia variabilis et progressiva 4, OMIM:617526
R-numbers: R166
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Erythrokeratodermia variabilis et progressiva 4