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GENATLAS PHENOTYPE

last update : 15-12-2012

Symbol	FFDD2
Location	2q37.3
Name	focal facial dermal dysplasia 2
Other name(s)	Brauer-Setleis syndrome
Corresponding gene	TWIST2
Main clinical features	bitemporal 'scars,' sparse lateral eyebrows, bulbous nose tip, thick lips, micrognathia, chin crease imperforate anus and rectocutaneous fistula, bilateral megaureters, hypotonia, growth and developmental delay
Genetic determination	autosomal dominant
Function/system disorder	dermatology
	mental retardation
	digestive tract/gastrointestinal
Type	disease

Remark(s)