Disease association ontology term - MONDO:0009603 - 3-hydroxyisobutyryl-CoA hydrolase deficiency
Term summary
- ID
- MONDO:0009603
- Name
- 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Ontology or CV name
- Disease association
- Definition
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.
