DCAF17

DDB1 and CUL4 associated factor 17
OMIM: 612515
PanelMode of inheritanceDetails
4 panels
R-numbers: R56
Signed-off version 1.121
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Woodhouse-Sakati syndrome, OMIM:241080
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, Woodhouse-Sakati syndrome, 241080
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Woodhouse-Sakati syndrome, 241080, WOODHOUSE-SAKATI SYNDROME (WOSAS)
R-numbers: R141
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Woodhouse-Sakati syndrome, 241080, Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness)