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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 05-11-2020 |
Symbol | SWS |
Location | 5p13.1 |
Name | Stuve-Wiedemann syndrome |
Other name(s) | Schwartz-Jampel type 2 syndrome, neonatal |
Corresponding gene | LIFR |
Other symbol(s) | STWS |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | osteo-articular |
Type | disease |
Gene product |
Name | leukemia inhibitory factor receptor |
Remark(s) |