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ENCombined Oxidative Phosphorylation Deficiency 53 (COXPD53)
Alias:
Coxpd53
Global Developmental Delay, Progressive Microcephaly, Structural Brain Abnormalities, and Autoinflammation
Elbracht-Isikay Syndrome
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Combined Oxidative Phosphorylation Deficiency 53, is also known as coxpd53. An important gene associated with Combined Oxidative Phosphorylation Deficiency 53 is C2orf69 (Chromosome 2 Open Reading Frame 69). Affiliated tissues include brain and liver, and related phenotypes are seizure and failure to thrive
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MALACARDS
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