Combined malonic and methylmalonic acidemia is an inborn error of metabolism that leads to the accumulation of malonic acid and methylmalonic acid in...

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 is a complex connective tissue disorder that presents with features overlapping both ost...

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 is a connective tissue disorder that primarily affects the bones, skin, and other suppor...

Combined oxidative phosphorylation defect type 11 is a condition that disrupts the body’s energy production due to mutations in the RMND1 gene. It aff...

Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disorder that affects energy production and muscle function. It is caused by...

Combined oxidative phosphorylation defect type 14 is a severe metabolic disorder that affects multiple organ systems, with a primary impact on the bra...

Combined oxidative phosphorylation defect type 15 is a mitochondrial disorder that affects energy production in cells. It is caused by pathogenic vari...

Combined oxidative phosphorylation defect type 17 is a disorder of mitochondrial energy metabolism caused by mutations in the ELAC2 gene. It typically...

Combined oxidative phosphorylation defect type 2 is a severe mitochondrial disorder that affects multiple systems from the earliest stages of developm...

Combined oxidative phosphorylation defect type 20 is a severe multisystem disorder affecting several organs, including the brain, heart, and muscles....

Combined oxidative phosphorylation defect type 21 is a very rare mitochondrial condition that primarily affects energy production in cells. It results...

Combined oxidative phosphorylation defect type 23 is a condition that affects cellular energy production by impairing the mitochondrial oxidative phos...

Combined oxidative phosphorylation defect type 24 is a condition affecting energy production in cells due to abnormalities in mitochondrial function....

Combined oxidative phosphorylation defect type 25 is a condition in which the body’s ability to produce energy is impaired due to a mutation in the MA...

Combined oxidative phosphorylation defect type 26 is a multisystem disorder caused by pathogenic variants in the TRMT5 gene that impair mitochondrial...

Combined oxidative phosphorylation defect type 27 is a very rare multisystem disorder caused by mutations in the CARS2 gene, which is essential for mi...

Combined oxidative phosphorylation defect type 30 is a severe disorder affecting mitochondrial energy production, caused by mutations in the TRMT10C g...

Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder that affects energy production in multiple organ systems. It is caus...

Combined oxidative phosphorylation defect type 7 is a rare mitochondrial condition that affects energy production in cells, particularly impacting the...

Combined oxidative phosphorylation defect type 8 is a mitochondrial disorder that impairs the production of essential energy in cardiac, skeletal musc...