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GENATLAS PHENOTYPE

last update : 07-10-2009

Symbol	DWM2
Location	6p25.3
Name	Dandy-Walker malformation-linked locus 2
Other name(s)	Dandy-Walker syndrome
Corresponding gene	FOXC1
Main clinical features	deletions or duplications encompassing FOXC1 are associated with cerebellar and posterior fossa malformations including cerebellar vermis hypoplasia (CVH), mega-cisterna magna (MCM) and DWM three individuals with heterozygous mutation have mild CVH with normal vermis position and posterior fossa size
Genetic determination
Related entries	DWS1
Function/system disorder
Type	malformation

Remark(s)

alteration of FOXC1 function alone causes CVH and contributes to MCM and DWM.

Genotype/Phenotype correlations

the clinical diagnoses of isolated CVH, MCM and DWM belong to a single spectrum and may be associated with genes with posterior fossa mesenchymal expression