FLNC, filamin C, 2318

N. diseases: 132; N. variants: 56
Disease: Hoarseness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019825
Disease: Hoarseness
Hoarseness 		0.010 GeneticVariation phenotype BEFREE We revealed several novel clinical phenotypes and unusual multisystemic presentations with previously described mutations: hearing impairment with a FLNC mutation, dysphonia with a mutation in DES and the first patient with a FLNC mutation presenting respiratory insufficiency as the initial symptom. 25208129 2014