mitochondrial respiratory chain complex deficiency mitochondrial complex I deficiency https://github.com/monarch-initiative/mondo/issues/8334 https://rarediseases.info.nih.gov/diseases/3908/mitochondrial-complex-i-deficiency https://www.malacards.org/card/mitochondrial_complex_i_deficiency_nuclear_type_1 isolated complex I deficiency mitochondrial respiratory chain complex I deficiency A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene. MESH:C537475 complex 1 mitochondrial respiratory chain deficiency MONDO:0100133 isolated mitochondrial respiratory chain complex I deficiency GARD:0003908 Orphanet:2609 isolated NADH-ubiquinone reductase deficiency NANDO:1200180 MEDGEN:374101 isolated NADH-CoQ reductase deficiency NADH coenzyme Q reductase deficiency isolated NADH-coenzyme Q reductase deficiency DOID:0060536 UMLS:C1838979