rs879255597, NEDD4L

N. diseases: 3
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
0.010 GeneticVariation BEFREE We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. 28515470 2017