Summary Literature (0)

DOID:0060351 - mitochondrial complex III deficiency nuclear type 2

Disease Ontology Definition:A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has material basis in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern.

Synonyms: MC3DN2,

Echinobase Genes : ttc19


OMIM:

MIM:615157 - mitochondrial complex iii deficiency, nuclear type 2; mc3dn2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee