Variant: rs1565583382

present in Gene: PAK1 present in Chromosome: 11 Position on Chromosome: 77336213 Alleles of this Variant: T/C

rs1565583382 in PAK1 gene and INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY PMID 30290153 2018 Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.