Condition: Oto-Palato-digital syndrome type 1


rs137853314 in FLNA gene and Oto-Palato-digital syndrome type 1 PMID 15940695 2005 We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.

PMID 12612583 2003 Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

PMID 27193221 2016 Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

PMID 15940695 2005 A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation.