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last update : 25-10-2018
Symbol MCSZ2
Location 11q14.1
Name microcephaly, seizures, and developmental delay 2
Corresponding gene PAK1
Main clinical features
  • global developmental delay, microcephaly, seizures, ataxic gait, and highly active behavior, severe Intellectual disability
  • facial dysmorphism with long face, frontal bossing, and deep-set eyes
  • Genetic determination not applicable
    Function/system disorder mental retardation
    Type disease
  • heterozygous PAK1 mutations strongly impact fibroblast spreading and thereby result in a shift from cells with a round morphology to more cells enriched by filopodia (PMID: 30290153))
  • mutations perturb PAK1 function by reducing the dimerization capability of the PAK1 mutant with the wild-type form (PMID: 30290153))