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:
  • strabismus (majority)
  • pesplanus (majority)
  • seizures (40%)
  • short stature (15%)

Radiology

• magnetic resonance imaging demonstrates inferior cerebellar hypoplasia & mild cortical gyral simplification

More general terms

• syndrome
• cerebellar hypoplasia (cerebellar agenesis)

Database

• OMIM: https://mirror.omim.org/entry/224050