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VLDLR-associated cerebellar hypoplasiaVLDLR-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] First described as a form of cerebral palsy in the 1970s,[2] it is associated with parental consanguinity and is found in secluded communities, with a number of cases described in Hutterite families.[3] References
Categories: Congenital disorders | Nervous system |
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "VLDLR-associated_cerebellar_hypoplasia". A list of authors is available in Wikipedia. |