You are using an outdated browser. Please upgrade your browser to improve your experience.

combined oxidative phosphorylation deficiency 22

Disease Summary
Associated Targets (3)
Tbio

3


Uniprot Description A mitochondrial disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, pulmonary hypertension, failure to thrive, encephalopathy, and heart failure.
Mondo Term and Equivalent IDs
MONDO:0020727:  combined oxidative phosphorylation deficiency 22
DOID:0111498: 
OMIM:616045: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22