Additional Disease Briefs

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combined oxidative phosphorylation defect type 4

Also known as: COXPD4, TUFM combined oxidative phosphorylation deficiency, combined oxidative phosphorylation defect type 4, combined oxidative phosphorylation deficiency 4, combined oxidative phosphorylation deficiency caused by mutation in TUFM, combined oxidative phosphorylation deficiency type 4


combined oxidative phosphorylation defect type 7

Also known as: C12ORF65 combined oxidative phosphorylation deficiency, C12orf65 combined oxidative phosphorylation deficiency, COXPD7, combined oxidative phosphorylation deficiency 7, combined oxidative phosphorylation deficiency caused by mutation in C12ORF65, combined oxidative phosphorylation deficiency caused by mutation in C12orf65, combined oxidative phosphorylation deficiency type 7, severe C12ORF65-related COXPD, severe C12ORF65-related combined oxidative phosphorylation defect


combined oxidative phosphorylation defect type 8

Also known as: AARS2 combined oxidative phosphorylation deficiency, COXPD8, cardiomyopathy, hypertrophic mitochondrial, fatal infantile, combined oxidative phosphorylation deficiency 8, combined oxidative phosphorylation deficiency caused by mutation in AARS2, combined oxidative phosphorylation deficiency type 8


combined oxidative phosphorylation defect type 9

Also known as: COXPD9, MRPL3 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency 9, combined oxidative phosphorylation deficiency caused by mutation in MRPL3, combined oxidative phosphorylation deficiency type 9



combined oxidative phosphorylation deficiency 28

Also known as: COXPD28, SLC25A26 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation defect type 28, combined oxidative phosphorylation deficiency 28, combined oxidative phosphorylation deficiency caused by mutation in SLC25A26, combined oxidative phosphorylation deficiency type 28, neonatal severe cardiopulmonary failure due to mitochondrial methylation defect


combined oxidative phosphorylation deficiency 29

Also known as: COXPD29, TXN2 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency 29, combined oxidative phosphorylation deficiency 29; COXPD29, combined oxidative phosphorylation deficiency caused by mutation in TXN2, combined oxidative phosphorylation deficiency type 29