MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: Conotruncal defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		0.010 Biomarker disease BEFREE MED13L haploinsufficiency syndrome has been described in two patients and is characterized by moderate intellectual disability (ID), conotruncal heart defects, facial abnormalities and hypotonia. 24781760 2015