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, pes planus, strabismus, cataracts, hyperreflexia, developmental delay, hypotonia, ataxia, psychomotor delay, other motor and balance irregularities |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Hutterite | |
| Gene: | VLDLR |
| Base Change: | 199-kb deletion |
| Amino Acid Change: | Deletion of entire gene |
| Last updated: | 2022-11-03 |
| 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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