Disease association ontology term - MONDO:0010477 - blepharophimosis - intellectual disability syndrome, MKB type
Term summary
- ID
- MONDO:0010477
- Name
- blepharophimosis - intellectual disability syndrome, MKB type
- Ontology or CV name
- Disease association
- Definition
- The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.