GLS

PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glucosidase 1 deficiency (Disorders of protein N-glycosylation), Epileptic encephalopathy, early infantile, 71 618328, Global developmental delay, progressive ataxia, and elevated glutamine 618412