PIGU

phosphatidylinositol glycan anchor biosynthesis class U
OMIM: 608528
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590
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
Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590