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VLDLR-associated cerebellar hypoplasia

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VLDLR-associated cerebellar hypoplasia

VLDLR-associated cerebellar hypoplasia
Classification and external resources
OMIM 224050

VLDLR-associated cerebellar hypoplasia (VLDLRCH; alternative names: dysequilibrium syndrome, DES; nonprogressive cerebellar disorder with mental retardation) is a rare autosomal recessive condition caused by a disruption of the VLDLR gene.[1][2] First described as a form of cerebral palsy in the 1970s,[3] it is associated with parental consanguinity and is found in secluded communities, with a number of cases described in Hutterite families.[4]

References


External links

  • GeneReviews/NCBI/NIH/UW entry on VLDLR-associated cerebellar hypoplasia
  • OMIM record
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