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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 27-11-2019 |
Symbol | SEMD7 |
Location | 16q24.3 |
Name | spondyloepimetaphyseal dysplasia 7 |
Corresponding gene | RPL13 |
Main clinical features |
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Genetic determination | not applicable |
Function/system disorder | osteo-articular |
Type | disease |
Remark(s) |
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