ST3GAL3

ST3 beta-galactoside alpha-2,3-sialyltransferase 3
OMIM: 606494
PanelMode of inheritanceDetails
2 panels
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
Intellectual disability, Epileptic encephalopathy, early infantile, 15 615006, ST3GAL3-CDG (Disorders of protein N-glycosylation)
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
Mental retardation, autosomal recessive 12, 611090Epileptic encephalopathy, early infantile, 15, 615006, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12