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GENATLAS PHENOTYPE

last update : 10-01-2024

Symbol	BOMOS
Location	5p13.3
Name	Boudin-Mortier syndrome
Other name(s)	tall stature and long digits with extra epiphyses
Corresponding gene	NPR3
Main clinical features	tall stature, arachnodactyly, disproportionately elongated great toes, and multiple extra epiphyses. Some patients also show joint hypermobility and dilation of the aortic root mimicking Marfan syndrome, but negative for mutation in genes of Marfan
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
	cardiovascular
Type	disease

Remark(s)