Term Name: mitochondrial complex III deficiency nuclear type 2
Synonyms: MC3DN2
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.
Ontology: Human Disease [DOID:0060351]   ( DOID:0060351 )

Relationships
is a type of: mitochondrial complex III deficiency