Human genes for mitochondrial complex III deficiency nuclear type 2
Mitochondrial complex III deficiency nuclear type 2 [DOID:0060351]
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: mitochondrial complex III deficiency nuclear type 2, DOID:0060351, MC3DN2