VLDLR-associated cerebellar hypoplasia

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VLDLR-associated cerebellar hypoplasia2016-11-28T12:33:20+00:00

VLDLR-associated cerebellar hypoplasia 

MOLECULAR MEDICINE, NEUROLOGY  

An autosomal recessive condition (OMIM:224050) characterised by non-progressive congenital ataxia, predominantly truncal, resulting in delayed ambulation, moderate-to-profound intellectual disability, dysarthria, strabismus, and seizures. Children walk very late (age > 6) or not at all.

Genetics It was first described in Hutterites in North America; it also occurs in consanguineous families from Iran and Turkey. 

Molecular pathology Deletions of VLDLR, which encodes very low density lipoprotein receptor, cause VLDLR-associated cerebellar hypoplasia.

Synonyms DES, dysequilibrium syndrome, nonprogressive cerebellar disorder with mental retardation, VLDLRCH 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=VLDLR

 http://www.ncbi.nlm.nih.gov/books/NBK1874/

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