PIGP

phosphatidylinositol glycan anchor biosynthesis class P
OMIM: 605938
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 55, 617599, Generalized hypotonia, Global developmental delay, Seizures, Intellectual disability, Feeding difficulties, Cortical visual impairment
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
Epileptic encephalopathy, early infantile, 55, 617599, Generalized hypotonia, Global developmental delay, Seizures, Intellectual disability, Feeding difficulties, Cortical visual impairment