MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: Congenital macroglossia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009677
Disease: Congenital macroglossia
Congenital macroglossia 		0.010 GeneticVariation disease BEFREE Even if most clinical features of MED13L-related intellectual disability are rather non-specific, the syndrome may be suspected in some individuals based on the association of developmental delay, speech impairment, bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance. 29959045 2019