Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.130 CausalMutation CLINVAR A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. 26733290

2016