TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Clumsiness - motor delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.010 GeneticVariation disease BEFREE We present an atypical and inherited 0.8-Mb duplication at 22q11.2, in the distal segment of the DGS/VCFS syndrome typically deleted region (TDR), in a 3-year-old boy with motor delay, language disorders and mild facial phenotype. 22796526 2012