Visualize
Metadata
DOID DOID:0050713
Name fatal infantile encephalocardiomyopathy
Definition A mitochondrial metabolism disease that has_material_basis_in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase.
http://omim.org/entry/604377
Xrefs

OMIM:604377

OMIM:615119

ORDO:1561

Subsets

DO_rare_slim

Synonyms

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [EXACT]

fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency [EXACT]

fatal infantile COX deficiency [EXACT]

Relationships

is_a mitochondrial metabolism disease

Add an item to the term tracker