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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 03-04-2013 |
Symbol | COXPD15 |
Location | 15q22.31 |
Name | combined oxidative phosphorylation deficiency 15 |
Corresponding gene | MTFMT |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | mental retardation |
Type | disease |
Remark(s) |