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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 06-12-2014 |
Symbol | GDXY |
Location | Yp11.3 |
Name | gonadal dysgenesis, XY , SRY-related |
Other name(s) |
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Corresponding gene | SRY |
Other symbol(s) | TDFX, XYDSD |
Main clinical features |
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Genetic determination | other |
Function/system disorder | sex-genitalia |
Type | other |
Gene product |
Name | sex determining factor (SRY) |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| various types
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| About 46 mutations have been identified within the open reading frame of the SRY gene. Primarily,
these mutations are within the HMG box.
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Remark(s) |
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Genotype/Phenotype correlations |
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