NUP188

PanelMode of inheritanceDetails
3 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandestig-Stefanova syndrome, 618804
R-numbers: R88
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandestig-Stefanova syndrome, OMIM:618804
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandestig-Stefanova syndrome, 618804