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GENATLAS PHENOTYPE

last update : 10-05-2014

Symbol	MDWS
Location	18p11.2
Name	Marden -Walker syndrome
Corresponding gene	PIEZO2
Main clinical features	blepharophimosis, micrognathia, immobile facies, kyphoscoliosis, limb contractures, pigeon breast, and arachnodactyly, variable mental retardation
Genetic determination	autosomal recessive
Function/system disorder	eye
	neuromuscular
Type	disease

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