Disease association ontology term - MONDO:0010258 - MEHMO syndrome
Term summary
- ID
- MONDO:0010258
- Name
- MEHMO syndrome
- Ontology or CV name
- Disease association
- Definition
- MEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.
