Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 06-01-2016
Symbol CDCBM6
Location 6p21.3
Name cortical dysplasia, complex, with other brain malformations 6
Corresponding gene TUBB
Main clinical features
  • severely delayed psychomotor development and microcephaly (range -2.5 to -4 SD) with multiple abnormalities on brain imaging: dysmorphic basal ganglia, white matter streaks, corpus callosum abnormalitiesand cerebellar abnormalities; also complex cortical dysgenesis, with focal polymicrogyria and localized band heterotopia with retinal dysplasia and microphthalmia
  • Genetic determination
    Function/system disorder
    Type disease
    Remark(s)