SI

sucrase-isomaltase
OMIM: 609845
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 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900, Disaccharide intolerance 1 (Other carbohydrate disorders)
R-numbers: R331
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sucrase-isomaltase deficiency, congenital, OMIM:222900