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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 09-07-2018 |
Symbol | LJFS1 |
Location | Xq13.1 |
Name | Lujan-Fryns syndrome 1 |
Corresponding gene | MED12 |
Main clinical features |
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Genetic determination | sex linked |
Function/system disorder | kidney and urinary tract |
Type | disease |
Remark(s) |
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