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Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7

Summary

Mitochondrial complex V deficiency nuclear type 7 (MC5DN7) is an autosomal recessive disorder characterized by hypotonia and global developmental delay apparent soon after birth. More variable features include poor growth, seizures, dystonia, hypertrophic cardiomyopathy, and brain imaging abnormalities. Some affected individuals die in infancy or childhood (Zech et al., 2022, Ganapathi et al., 2022). For a discussion of genetic heterogeneity of mitochondrial complex V deficiency, nuclear types, see MC5DN1 (604273). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ATP5O, ATPO, HMC08D05, MC5DN7, OSCP, ATP5PO
    Summary: ATP synthase peripheral stalk subunit OSCP

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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