mitochondrial complex IV deficiency nuclear type 23

Term ID

DOID:0070485

Synonyms

• MC4DN23

Definition

A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22. https://pubmed.ncbi.nlm.nih.gov/36030551/

References

• OMIM:620275
• UMLS_CUI:C5830322

Ontology

Human Disease   ( DOID:0070485 )