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Term:Combined Oxidative Phosphorylation Deficiency 24
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Accession:DOID:9004262 term browser browse the term
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Definition:An autosomal recessive mitochondrial disorder with wide phenotypic variability. Most patients present in infancy with delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment due to auditory neuropathy. Less common features may include cortical blindness, renal dysfunction, and/or liver involvement, suggestive of Alpers syndrome (MTDPS4A). COXPD24 is caused by homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14. (OMIM)
Synonyms:exact_synonym: COXPD24
 alt_id: RDO:9001405
 replaced_by: DOID:0111485
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