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cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene.
Uniprot Description An infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy, left ventricular non-compaction, lactic acidosis, metabolic hypotonia, and mitochondrial complex IV deficiency.
Mondo Term and Equivalent IDs
MONDO:0014668:  cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
UMLS:C4225304: