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GENATLAS PHENOTYPE

last update : 10/07/2006

Symbol	HPE7
Location	9q22.3
Name	holoprosencephaly
Corresponding gene	PTCH1
Other symbol(s)	HPE25
Main clinical features	alobar holoprosencephaly, seizures, bilateral cleft lip and hypotelorism
Genetic determination	autosomal dominant
Function/system disorder	congenital malformation
Type	malformation