PIGU

phosphatidylinositol glycan anchor biosynthesis class U
OMIM: 608528
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 2, 618590, myoclonic seizures, focal myoclonic seizures, Global developmental delay, Intellectual disability, Seizures, Cerebral atrophy, Cerebellar hypoplasia, Scoliosis
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
Glycosylphosphatidylinositol biosynthesis defect 2, 618590, Global developmental delay, Intellectual disability, Seizures, Cerebral atrophy, Cerebellar hypoplasia, Scoliosis