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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 07-12-2019 |
Symbol | CWS |
Location | Xq13.3 |
Name | mental retardation-hypotonic facies syndrome |
Other name(s) |
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Corresponding gene | ATRX |
Main clinical features | "coarse" facial appearance, brachydactyly with widening of the distal phalanges, short stature, and moderate mental retardation |
Genetic determination | sex linked |
Related entries | ATRX |
Function/system disorder | mental retardation |
Type | disease |
Gene product |
Name | transcriptional regulator ATRX |
Remark(s) | disorders allelic to ATRX syndrome |