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Article

Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2.

American journal of medical genetics. Part A - 1 Apr 2011

Murphy-Ryan Maureen, Babovic-Vuksanovic Dusica, Lindor Noralane

Abstract excerpt

We report on a male infant with otopalatodigital syndrome type 2 (OPD2) associated with a novel c.514C>G FLNA mutation and unusual clinical features including bifid tongue and congenital corneal clouding. Bifid tongue and congenital corneal clouding have each only been described once previously in a patient with OPD2, and this is the first description of Dandy-Walker malformation (DWM) in OPD2. The presence of...

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Source

Identifiers

PMID: 21412975
DOI: 10.1002/ajmg.a.33901

Genes

FLNA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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