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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 26-08-2013 |
Symbol | SMCD2 |
Location | 4p31.1 |
Name | Smith-McCort dysplasia 2 |
Corresponding gene | RAB33B |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | osteo-articular |
Type | disease |
Remark(s) |