VLDLR-associated cerebellar hypoplasia

VLDLR-associated cerebellar hypoplasia
Other namesDysequilibrium syndrome, DES; Nonprogressive cerebellar disorder with mental retardation)

VLDLR-associated cerebellar hypoplasia (VLDLRCH) is a rare autosomal recessive condition caused by a disruption of the VLDLR gene. First described as a form of cerebral palsy in the 1970s, it is associated with parental consanguinity and is found in secluded communities, with a number of cases described in Hutterite families.

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