HIBCH

3-hydroxyisobutyryl-CoA hydrolase
OMIM: 610690
PanelMode of inheritanceDetails
8 panels
R-numbers: R57
Signed-off version 4.3
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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HIBCH DEFICIENCY 250620
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HIBCH DEFICIENCY
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HIBCH DEFICIENCY
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-hydroxyisobutryl-CoA hydrolase deficiency, 250620, HIBCH deficiency, Methacrylic aciduria (Organic acidurias)
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-hydroxyisobutryl-CoA hydrolase deficiency, 250620, HIBCH deficiency
R-numbers: R63
Signed-off version 3.105
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