rs776679653 in
ISCA1 gene and
Pachygyria
PMID 28356563 2017 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
rs386834034 in
POMGNT1;TSPAN1 gene and
Pachygyria
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs864309676 in
STX7 gene and
Pachygyria
PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.