OSGEP

O-sialoglycoprotein endopeptidase
OMIM: 610107
PanelMode of inheritanceDetails
4 panels
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
Galloway-Mowat syndrome 3, 617729, Intellectual disability
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 3 617729
R-numbers: R195
Signed-off version 2.32
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 3 617729
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galloway-Mowat syndrome 3 617729