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GENATLAS PHENOTYPE

last update : 01-09-2010

Symbol	MMDK
Location	2q31
Name	mesomelic dysplasia, Kantaputra type
Other name(s)	mesomelic dysplasia, Thai type
Other symbol(s)	MDK
Main clinical features	dwarfism, shortening of the forearms/lower-legs, carpal/tarsal synostosis, and dorsolateral foot deviation.
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
Type	malformation

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	duplication		duplication of the HOXD cluster locus (Cho 2010, Kantaputra 2010)

Remark(s)