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VLDLR-associated cerebellar hypoplasia; disequilibrium syndrome (DES); non-progressive cerebellar disorder with mental retardation (VLDLRCH)
Genetics:
- deletions involving VLDLR may be the cause of VLDLR-associated cerebellar hypoplasia
Clinical manifestations:
- moderate-to-profound mental retardation
- delayed ambulation
- predominantly truncal ataxia
- additional features include:
a) strabismus (majority)
b) pesplanus (majority)
b) seizures (40%)
c) short stature (15%)
Radiology:
- magnetic resonance imaging demonstrates inferior cerebellar hypoplasia & mild cortical gyral simplification
General
syndrome
cerebellar hypoplasia (cerebellar agenesis)
Database Correlations
OMIM 224050
References
UniProt :accession P98155