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.