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GENATLAS PHENOTYPE
last update : 07-11-2013
Symbol CDCBM2
Location 2q23.1
Name cortical dysplasia, complex, with other brain malformations 2
Corresponding gene KIF5C
Main clinical features
  • intrauterine growth retardation, severe arthrogryposis, and microcephaly (-4 SD) at birth, with d clonic seizures in the first months of life, .spastic tetraplegia, mental retardation
  • brain MRI showed frontal and perisylvian polymicrogyria and a thin corpus callosum with a normal brainstem and cerebellar vermis
  • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)