MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: Speech Delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.010 GeneticVariation disease BEFREE Review of the reported patients with MED13L haploinsufficiency indicates moderate to severe ID and facial anomalies in all patients, as well as severe speech delay and muscular hypotonia in the majority. 28645799 2017