PIGH

phosphatidylinositol glycan anchor biosynthesis class H
OMIM: 600154
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 17, 618010, epilepsy, febrile seizures
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycosylphosphatidylinositol biosynthesis defect, 17 OMIM:618010, Hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures