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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 |
| |
Genetic determination | autosomal recessive | |
Function/system disorder
Type
| disease
| |
Remark(s) |
|