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combined oxidative phosphorylation deficiency 28

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.
Uniprot Description An autosomal recessive mitochondrial disorder characterized by decreased activities of respiratory chain enzymes, and variable clinical manifestations. Clinical features include episodic metabolic decompensation beginning in infancy, mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death.
Mondo Term and Equivalent IDs
MONDO:0014775:  combined oxidative phosphorylation deficiency 28
DOID:0111470: 
Orphanet:466784: 
UMLS:C4225206: