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GENATLAS PHENOTYPE

last update : 13/12/2008

Symbol	OFD1
Location	Xp22.2
Name	orofaciodigital syndrome type 1
Other name(s)	Gorlin-Psaume syndrome Papillon-League-Psaume syndrome
Corresponding gene	OFD1
Main clinical features	male-lethal X-linked dominant developmental disorder polycystic kidneys ( present in 60p100 of cases >18 years ), progressive renal failure, hydocephalus and malformations of the face, oral cavity, and digits agenesis of corpus callosum
Genetic determination	sex linked
Function/system disorder	congenital malformation
	kidney and urinary tract
	limbs
Type	disease

Remark(s)

Genotype/Phenotype correlations

high-arched/cleft palate most frequently associated to missense and splice-site mutations