HIBCH

3-hydroxyisobutyryl-CoA hydrolase
OMIM: 610690
PanelMode of inheritanceDetails
8 panels
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-hydroxyisobutryl-CoA hydrolase deficiency 250620
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HIBCH DEFICIENCY 250620
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HIBCH DEFICIENCY
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-hydroxyisobutryl-CoA hydrolase deficiency, 250620, HIBCH deficiency, Methacrylic aciduria (Organic acidurias)
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
HIBCH DEFICIENCY
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-hydroxyisobutryl-CoA hydrolase deficiency, 250620, HIBCH deficiency
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620
R-numbers: R316
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620