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ENCombined Oxidative Phosphorylation Deficiency 36 (COXPD36)
Alias:
Coxpd36
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Combined Oxidative Phosphorylation Deficiency 36, is also known as coxpd36. An important gene associated with Combined Oxidative Phosphorylation Deficiency 36 is MRPS2 (Mitochondrial Ribosomal Protein S2). Affiliated tissues include skin, and related phenotypes are intellectual disability and hypotonia
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Basic Information
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MALACARDS
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HPO Frequency
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MGI
Related Gene
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IF
