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combined oxidative phosphorylation deficiency 29

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 TXN2 gene.
Uniprot Description An autosomal recessive, infantile-onset, neurodegenerative disorder characterized by decreased activities of mitochondrial respiratory complexes I and III, severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy.
Mondo Term and Equivalent IDs
MONDO:0014781:  combined oxidative phosphorylation deficiency 29
DOID:0111501: 
UMLS:C4225200: