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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
| MIM:615157 - mitochondrial complex iii deficiency, nuclear type 2; mc3dn2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
mitochondrial complex III deficiency (is_a)