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combined oxidative phosphorylation defect type 25

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene.
Uniprot Description A mitochondrial disorder resulting in developmental delay, growth failure, and sensorineural hearing loss.
Mondo Term and Equivalent IDs
MONDO:0014636:  combined oxidative phosphorylation defect type 25
DOID:0111468: 
EFO:0009035: 
Orphanet:447954: 
UMLS:C4225329: