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GENATLAS PHENOTYPE

last update : 17-11-2015

Symbol	HYD1
Location	14q13.3
Name	hypodontia 1
Other name(s)	tooth agenesis, familial tooth agenesis, selective, 3 anondontia, partial
Corresponding gene	PAX9
Other symbol(s)	STHAG3
Main clinical features	absence of second premolars and third molars, occasionally associated with orofacial cleft
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Remark(s)

mostly frequent missense mutations within the DNA-binding paired domain (Wang 2009)