VLDLR-associated cerebellar hypoplasia
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| VLDLR-associated cerebellar hypoplasia | |
|---|---|
| Other names | Dysequilibrium 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.