| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. (Human Disease Ontology, DOID_859) |
| External Link | http://www.omim.org/entry/253270 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the Holocarboxylase synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| HLCS | holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) |
