ALG2

ALG2, alpha-1,3/1,6-mannosyltransferase
OMIM: 607905
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndromes, Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228, Congenital disorder of glycosylation CDG type Ii, 607906