HADH

hydroxyacyl-CoA dehydrogenase
OMIM: 601609
PanelMode of inheritanceDetails
4 panels
R-numbers: R144
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital hyperinsulinemic hypoglycemia (HH), Hyperinsulinism, Dominant/Recessive, 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530, Protein sensitive hyperinsulinism
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY 231530
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
3-hydroxyacyl-CoA dehydrogenase deficiency 231530, Hyperinsulinemic hypoglycemia, familial, 4 609975
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
3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY