Additional Disease Briefs

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combined oxidative phosphorylation defect type 17

Also known as: COXPD17, ELAC2 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency 17, combined oxidative phosphorylation deficiency caused by mutation in ELAC2, combined oxidative phosphorylation deficiency type 17


combined oxidative phosphorylation defect type 2

Also known as: COXPD2, MRPS16 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency 2, combined oxidative phosphorylation deficiency caused by mutation in MRPS16, combined oxidative phosphorylation deficiency type 2, corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis


combined oxidative phosphorylation defect type 20

Also known as: COXPD20, VARS2 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency 20, combined oxidative phosphorylation deficiency caused by mutation in VARS2, combined oxidative phosphorylation deficiency type 20


combined oxidative phosphorylation defect type 21

Also known as: COXPD21, TARS2 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency 21, combined oxidative phosphorylation deficiency caused by mutation in TARS2, combined oxidative phosphorylation deficiency type 21


combined oxidative phosphorylation defect type 23

Also known as: COXPD23, GTPBP3 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency 23, combined oxidative phosphorylation deficiency caused by mutation in GTPBP3, combined oxidative phosphorylation deficiency type 23


combined oxidative phosphorylation defect type 24

Also known as: COXPD24, NARS2 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency 24, combined oxidative phosphorylation deficiency caused by mutation in NARS2, combined oxidative phosphorylation deficiency type 24


combined oxidative phosphorylation defect type 25

Also known as: COXPD25, MARS2 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency 25, combined oxidative phosphorylation deficiency caused by mutation in MARS2, combined oxidative phosphorylation deficiency type 25


combined oxidative phosphorylation defect type 26

Also known as: COXPD26, TRMT5 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency 26, combined oxidative phosphorylation deficiency caused by mutation in TRMT5, combined oxidative phosphorylation deficiency type 26


combined oxidative phosphorylation defect type 27

Also known as: CARS2 combined oxidative phosphorylation deficiency, COXPD27, combined oxidative phosphorylation deficiency 27, combined oxidative phosphorylation deficiency caused by mutation in CARS2, combined oxidative phosphorylation deficiency type 27


combined oxidative phosphorylation defect type 30

Also known as: COXPD30, TRMT10C combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiency 30, combined oxidative phosphorylation deficiency caused by mutation in TRMT10C, combined oxidative phosphorylation deficiency type 30