VLDLR-associated cerebellar hypoplasia
Medical condition
From Wikipedia, the free encyclopedia
VLDLR-associated cerebellar hypoplasia (VLDLRCH) 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]
| VLDLR-associated cerebellar hypoplasia | |
|---|---|
| Other names | Dysequilibrium syndrome, DES; Nonprogressive cerebellar disorder with mental retardation) |
