Condition: Polymicrogyria


rs587777893 in MTOR gene and Polymicrogyria PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

rs386834034 in POMGNT1;TSPAN1 gene and Polymicrogyria PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.