Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
R-numbers: R57 Signed-off version 3.56 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency 250620 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HIBCH DEFICIENCY 250620 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HIBCH DEFICIENCY |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HIBCH DEFICIENCY |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620, HIBCH deficiency, Methacrylic aciduria (Organic acidurias) |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.114 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620, HIBCH deficiency |
R-numbers: R63 Signed-off version 3.69 | 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 |