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GENATLAS PHENOTYPE

last update : 08-02-2012

Symbol	CDD
Location	17q21
Name	craniodiaphyseal dysplasia
Corresponding gene	SOST
Main clinical features	rare sclerosing bone dysplasia massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
Type	disease

Remark(s)