Disease association ontology term - MONDO:0015601 - X-linked intellectual disability, van Esch type
Term summary
- ID
- MONDO:0015601
- Name
- X-linked intellectual disability, van Esch type
- Ontology or CV name
- Disease association
- Definition
- X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism.