rs1057518801, SCN3A

N. diseases: 5
Disease: Polymicrogyria ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
0.710 GeneticVariation BEFREE All patients presented with treatment-resistant epilepsy in the first year of life, severe to profound intellectual disability, and in 2 cases (both with the variant p.Ile875Thr), diffuse polymicrogyria. 29466837 2018
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
0.710 GeneticVariation CLINVAR