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GENATLAS PHENOTYPE

last update : 21-09-2015

Symbol	WMS3
Location	14q24.3
Name	Weill-Marchesani syndrome 3
Corresponding gene	LTBP2
Main clinical features	rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and megalocornea and microspherophakia with early ectopia lentis probably secondary to the small round lens appears to be the most specific findings
Genetic determination	autosomal recessive
Function/system disorder	eye
	osteo-articular
Type	disease

Remark(s)

mutations leading to disruptions of the microfibrillar network in the ECM of the proband skin (PMID: 22539340))