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GENATLAS PHENOTYPE
last update : 26-11-2019
Symbol MCLIS1
Location 10q26.3
Name microcephaly with lissencephaly 1
Corresponding gene TUBGCP2
Main clinical features
  • microcephaly and developmental delay; at MRI, varying degrees of cortical malformations including pachygyria and subcortical band heterotopia, thin corpus callosum, cerebellar volume loss
  • speech delay and dyslexia, truncal hypotonia, motor developmental delay, seizures, and micrognathia
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)