MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: Craniosynostosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.010 GeneticVariation disease BEFREE The older sister of the siblings showed craniosynostosis; this condition has never been reported in patients with MED13L haploinsufficiency syndrome. 28371282 2017