TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
Disease: Vocal Cord Paralysis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis 		0.010 GeneticVariation disease BEFREE We now confirm by electrophysiology that a progressive sensorimotor polyneuropathy does indeed segregate with the mutation, and expand the TUBB3 E410K phenotype to include Kallmann syndrome (hypogonadotropic hypogonadism and anosmia), stereotyped midface hypoplasia, intellectual disabilities and, in some cases, vocal cord paralysis, tracheomalacia and cyclic vomiting. 23378218 2013