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ENCombined Oxidative Phosphorylation Deficiency 40 (COXPD40)
Alias:
Coxpd40
Qrsl1-Related Coxpd
Qrsl1-Related Combined Oxidative Phosphorylation Defect
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Combined Oxidative Phosphorylation Deficiency 40, also known as coxpd40, is related to hypoparathyroidism-deafness-renal disease syndrome. An important gene associated with Combined Oxidative Phosphorylation Deficiency 40 is QRSL1 (Glutaminyl-TRNA Amidotransferase Subunit QRSL1). Affiliated tissues include brain and globus pallidus, and related phenotypes are hearing impairment and anemia
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