DPM2

dolichyl-phosphate mannosyltransferase subunit 2, regulatory
OMIM: 603564
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
musclular dystrophy dystroglycanopathy syndrome with severe epilepsy, Congenital disorder of glycosylation, type Iu 615042
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
Congenital disorder of glycosylation, type Iu 615042, Congenital disorder of glycosylation, type Iu 615042