ALDH6A1

aldehyde dehydrogenase 6 family member A1
OMIM: 603178
PanelMode of inheritanceDetails
1 panel
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
Methylmalonate semialdehyde dehydrogenase deficiency 614105, 3-Hydroxyisobutyric aciduria (Organic acidurias), Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias)