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Human Disease

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
Ontology
Human Disease   ( DOID:0070485 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models