Amish, Mennonite, and Hutterite
Genetic Disorder Database

Cerebellar Hypoplasia, VLDLR-Associated

Disorder
OMIM #: #224050  (Click to access OMIM database)
Disorder: Cerebellar Hypoplasia, VLDLR-Associated 
Also known as: VLDLRCH, DYSEQUILIBRIUM SYNDROME
DES, CEREBELLAR DISORDER, NONPROGRESSIVE, WITH MENTAL RETARDATION 
Clinical
Phenotype: cerebellar atrophy, short stature, strabismus, cataracts, hyperreflexia, developmental delay/mental retardation, hypotonicity, cerebellar ataxia, seizures 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Hutterite  
Gene: VLDLR
Base Change: 199-kb deletion
Amino Acid Change: Deletion of entire gene
Last updated: 2009-03-15 

References
Boycott KM, Flavelle S, Bureau A, Glass HC, Fujiwara TM, Wirrell E, Davey K, Chudley AE, Scott JN, McLeod DR, Parboosingh JS. (2005) Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet 77(3): 477-483.
PubMed ID: 16080122 
Schurig V, Orman AV and Bowen P. (1981) Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites. Am J Med Genet 9(1): 43-53.
PubMed ID: 7246619 

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