TGDS, TDP-glucose 4,6-dehydratase, 23483

N. diseases: 63; N. variants: 7
Disease: Temtamy preaxial brachydactyly syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854466
Disease: Temtamy preaxial brachydactyly syndrome
Temtamy preaxial brachydactyly syndrome 		0.010 GeneticVariation disease BEFREE Our findings widen the phenotype spectrum caused by TGDS mutations and underline the phenotypic overlap with Temtamy preaxial brachydactyly syndrome. 28422407 2017