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GENATLAS PHENOTYPE

last update : 04-07-2016

Symbol	SEMD6
Location	Xq28
Name	X-Linked Spondyloepimetaphyseal Dysplasia 6
Corresponding gene	BGN
Other symbol(s)	SEMDX
Main clinical features	anomalies of the spine and the epiphyses and metaphyses of the long bones, resulting in short stature and osteoarthritic changes of the joints, Mesomelic short limb, genu varum, lumbar lodosis, joint laxity significant bowing of the legs, a waddling gait with lumbar lordosis, and brachydactyly
Genetic determination	sex linked
Function/system disorder	osteo-articular
Type	disease

Remark(s)