PIGQ

phosphatidylinositol glycan anchor biosynthesis class Q
OMIM: 605754
PanelMode of inheritanceDetails
1 panel
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 77, 618548, Intractable seizures, developmental delay, optic atrophy, epilepsy, Ohtahara syndrome