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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 22-05-2018 |
Symbol | COXPD36 |
Location | 9q34.3 |
Name | combined oxidative phosphorylation deficiency 36 |
Corresponding gene | MRPS2 |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | multisystem/generalized |
Type | disease |
Remark(s) |