TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042963
Disease: Vomiting
Vomiting
0.010 GeneticVariation phenotype 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