Condition: Microcephaly, Primary Autosomal Recessive, 5


rs1064795945 in ASPM gene and Microcephaly, Primary Autosomal Recessive, 5 PMID 12355089 2002 ASPM is a major determinant of cerebral cortical size.

PMID 19770472 2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

PMID 29706646 2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.