Disease association ontology term - MONDO:0957382 - multiple mitochondrial dysfunctions syndrome 7
Term summary
- ID
- MONDO:0957382
- Name
- multiple mitochondrial dysfunctions syndrome 7
- Ontology or CV name
- Disease association
- Definition
- Any multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the GCSH gene. It is characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems.
