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GENATLAS PHENOTYPE

last update : 21-08-2010

Symbol	ODPF
Location	Xq27.3-q28
Name	terminous osseous dysplasia and pigmentary defect
Other name(s)	osseous dysplasia, digital, with facial pigmentary defects and multiple frenula OPDF syndrome
Corresponding gene	FLNA
Other symbol(s)	ODPD, TODPD
Main clinical features	brachymesophalangia, facial pigmentary dysplasia, multiple frenula, metacarpal and metatarsal disorganization in females X-linked dominant characterized by terminal skeletal dysplasia, pigmentary defects of the skin, and recurrent digital fibromata during infancy
Genetic determination	sex linked
Function/system disorder	limbs
	dermatology
Type	disease

Remark(s)

. a unique variant, c.5217G>A (p.Val1724_Thr1739del), affect splicing, and it causes a deletion of 16 amino acids at the protein level (Sun 2010)