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中文Combined Oxidative Phosphorylation Deficiency 34 (COXPD34)
Alias:
Coxpd34
Syndromic Sensorineural Deafness Due to Combined Oxidative Phosphorylation Defect
Syndromic Sensorineural Hearing Loss Due to Coxpd
Syndromic Sensorineural Deafness Due to Coxpd
Combined Oxidative Phosphorylation Deficiency, Type 34
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复合氧化磷酸化缺陷34，也称为coxpd34。与复合氧化磷酸化缺陷34相关的基因是MRPS7（线粒体核糖体蛋白S7）。相关组织包括肝脏和骨髓，相关表型为低血糖和肝脂肪变性。
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MALACARDS
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