Condition: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)


rs147875659 in WDR62 gene and MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder) PMID 21496009 2011 Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.

PMID 20729831 2010 Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.

PMID 20890279 2010 WDR62 is associated with the spindle pole and is mutated in human microcephaly.

PMID 20890278 2010 Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.