Disease - Combined oxidative phosphorylation deficiency 22
- DefinitionA mitochondrial disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, pulmonary hypertension, failure to thrive, encephalopathy, and heart failure.
- AcronymCOXPD22
- Keywords
- Cross references
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Browse 1 entry- ATP synthase subunit alpha, mitochondrial · Gene: ATP5F1A (ATP5A, ATP5A1, ATP5AL2, ATPM) · Homo sapiens (Human) · 553 amino acids · Evidence at protein level · Annotation score: 5/5