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combined oxidative phosphorylation defect type 14

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 FARS2 gene.
Uniprot Description A severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes.
Mondo Term and Equivalent IDs
MONDO:0013986:  combined oxidative phosphorylation defect type 14
DOID:0111477: 
Orphanet:319519: 
UMLS:C3554168: