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Vaginal atresia

Bifid nasal tip

A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.

Total: 1

(per page)

PMID (PMCID)
23401257 (3581754)	MIXED_SAMPLE	Infant, Newborn
	Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.
	Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A. Am J Med Genet A. 2013;161A(3):473-8.
	In one severely affected infant who was diagnosed with MOTA syndrome because of bilateral eyelid colobomas, a bifid nasal tip, hydrometrocolpos and vaginal atresia, we found two nonsense mutations that likely result in complete loss of FREM1 function.