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GENATLAS PHENOTYPE
last update : 03-11-2010
Symbol MCPCM
Location 19q13.12
Name microcephaly with cortical malformations
Corresponding gene WDR62
Main clinical features
  • microcephaly with simplified gyri, severe microcephaly, developmental delay and seizures
  • at MRI, small brains, markedly simplified gyral patterns and corpus callosal abnormalities, as well as a diversity of additional cortical malformations including polymicrogyria, schizencephaly and subcortical heterotopia
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s) . a proliferative defect in brains of individuals with WDR62 mutations, potentially affecting the outer SVZ (precursors to upper layer cortical neurons) as well as defective neuronal migration