PIGB

phosphatidylinositol glycan anchor biosynthesis class B
OMIM: 604122
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 80, 618580, Generalized hypotonia, Global developmental delay, Intellectual disability, Seizures, Hearing abnormality, Abnormality of vision, Elevated alkaline phosphatase, Abnormality of the head, Abnormality of the hand, Abnormality of the foot
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
Epileptic encephalopathy, early infantile, 80, 618580, Generalized hypotonia, Global developmental delay, Intellectual disability, Seizures, Hearing abnormality, Abnormality of vision, Elevated alkaline phosphatase, Abnormality of the head, Abnormality of the hand, Abnormality of the foot