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GENATLAS PHENOTYPE

last update : 23-09-2013

Symbol	CMDR
Location	6q22.31
Name	craniometaphyseal dysplasia, rare autosomal recessive type
Corresponding gene	GJA1
Main clinical features	characterized by hypertelorism, hyperostosis and abnormal modeling, increased density of tubular bones and metaphyseal widening, especially of the lower limbs, more severe than the autosomal dominant type sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

Remark(s)