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cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

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 SCO2 gene.
Uniprot Description A disorder characterized by hypotonia, developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, neuronal loss in basal ganglia, brainstem and spinal cord, and cytochrome c oxidase deficiency.
Mondo Term and Equivalent IDs
MONDO:0011451:  cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1