TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Disease: Moderate intellectual disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.010 Biomarker disease BEFREE Shprintzen syndrome (velo-cardio-facial, VCFS) is a very rare morbid entity, seen in either familial or sporadic forms, with major clinical findings such as facial dysmorphism, cleft palate, cardiovascular (especially conotruncal-anomalies), mild/moderate mental retardation, or, more commonly, observed learning difficulty. 17117043 2007