Disease association ontology term - MONDO:0014261 - growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Term summary
- ID
- MONDO:0014261
- Name
- growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
- Ontology or CV name
- Disease association
- Definition
- Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.
