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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

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