MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
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 		0.120 Biomarker disease BEFREE MED13L-related intellectual disability is characterized by moderate intellectual disability (ID), speech impairment, and dysmorphic facial features. 29959045 2019
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.120 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
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.120 CausalMutation disease CLINVAR
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.120 Biomarker disease HPO