Disease association ontology term - MONDO:0010497 - intellectual disability, X-linked 102
Term summary
- ID
- MONDO:0010497
- Name
- intellectual disability, X-linked 102
- Ontology or CV name
- Disease association
- Definition
- An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.
