PIGH

phosphatidylinositol glycan anchor biosynthesis class H
OMIM: 600154
PanelMode of inheritanceDetails
1 panel
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 17, 618010, epilepsy, febrile seizures