Disease association ontology term - MONDO:0010437 - severe X-linked mitochondrial encephalomyopathy
Term summary
- ID
- MONDO:0010437
- Name
- severe X-linked mitochondrial encephalomyopathy
- Ontology or CV name
- Disease association
- Definition
- Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.
