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Combined oxidative phosphorylation defect type 24

^ http://www.ebi.ac.uk/efo/EFO_0009034


Combined oxidative phosphorylation defect type 24 is an autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe infantile-onset neurodegenerative disorder (Vanlander et al., 2015; Sofou et al., 2015). [ http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern ]

Synonyms: COXPD24

Term info

database cross reference
  • OMIM:616239 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
  • Orphanet:444458 (http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern)
term editor

Hannah McLaren