Condition: Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia


rs137852817 in CASK gene and Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia PMID 19165920 2008 Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

PMID 19377476 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

PMID 23165780 2012 Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations.

PMID 21735175 2012 Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).