Phenotypes associated with the disease hydroxyacyl glutathione hydrolase deficiency (OMIM:614033):
- Glyoxalase deficiency (HP:0003258). Evidence: PCS. (PMID:5485124)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:5485124)