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mitochondrial complex III deficiency nuclear type 9

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene.
Uniprot Description A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN9 clinical features include feeding difficulties, hypoglycemia, severe lactic acidosis, and delayed psychomotor development.
Mondo Term and Equivalent IDs
MONDO:0014496:  mitochondrial complex III deficiency nuclear type 9
UMLS:C4015253: