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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 28-11-2012 |
Symbol | COXPD13 |
Location | 2p16.1 |
Name | combined oxidative phosphorylation deficiency-13 |
Corresponding gene | PNPT1 |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | |
Type | disease |
Remark(s) |
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