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Term:combined oxidative phosphorylation deficiency 24
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Accession:DOID:0111485 term browser browse the term
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
 primary_id: OMIM:616239
 xref: ORDO:444458
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combined oxidative phosphorylation deficiency 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial JBrowse link 1 161,922,132 162,035,817 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        mitochondrial metabolism disease 310
          combined oxidative phosphorylation deficiency 44
            combined oxidative phosphorylation deficiency 24 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal recessive disease 2118
                combined oxidative phosphorylation deficiency 24 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.