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Combined oxidative phosphorylation deficiency 58

Summary

Combined oxidative phosphorylation deficiency-58 (COXPD58) is an autosomal recessive disorder characterized by a wide range of clinical presentations including neonatal lactic acidosis, epileptic encephalopathy, developmental delay and impaired intellectual development with nonspecific changes on brain MRI, or mitochondrial myopathy with a treatable neuromuscular transmission defect (Van Haute et al., 2023). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C17orf42, COXPD58, TEFM
    Summary: transcription elongation factor, mitochondrial

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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