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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)