Condition: Malformations of Cortical Development, Group II


rs745997770 in ASPM gene and Malformations of Cortical Development, Group II PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

rs1558005340 in ATP1A2 gene and Malformations of Cortical Development, Group II PMID 30690204 2020 Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

rs1556405129 in DCX gene and Malformations of Cortical Development, Group II PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

rs1555411378 in DYNC1H1 gene and Malformations of Cortical Development, Group II PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

rs1210404526 in EP300;EP300-AS1 gene and Malformations of Cortical Development, Group II PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

rs1557175424 in FLNA gene and Malformations of Cortical Development, Group II PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

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

rs864309676 in STX7 gene and Malformations of Cortical Development, Group II PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

rs1555162325 in TUBA1A gene and Malformations of Cortical Development, Group II PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

rs1555625363 in TUBB3 gene and Malformations of Cortical Development, Group II PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.