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References OMIM Gene GeneReviews HGMD HGNC
last update : 10-10-2015
Symbol DWS1
Location 3q24
Name Dandy-Walker syndrome 1
Other name(s) Dandy-Walker malformation
Corresponding gene ZIC1 , ZIC4
Other symbol(s) DWM
Main clinical features
  • defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle, with delayed motor development, hypotonia, and ataxia, about half have mental retardation and some have hydrocephalus
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease