Mitochondrial Complex Iii Deficiency, Nuclear Type 2 (MC3DN2)

Mitochondrial Complex Iii Deficiency, Nuclear Type 2, also known as mitochondrial complex iii deficiency nuclear type 2, is related to hereditary spastic paraplegia 18 and spastic paraplegia 14, autosomal recessive, and has symptoms including ataxia, paraparesis, spastic and tremor. An important gene associated with Mitochondrial Complex Iii Deficiency, Nuclear Type 2 is SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways/superpathways are Primary ovarian insufficiency and Apoptosis modulation and signaling. Affiliated tissues include brain and liver, and related phenotypes are global developmental delay and seizure