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cerebellar hypoplasia (cerebellar agenesis)

Genetics: - associated with defects in PTF1A gene

Related

cerebellar dysplasia

Specific

VLDLR-associated cerebellar hypoplasia; disequilibrium syndrome (DES); non-progressive cerebellar disorder with mental retardation (VLDLRCH)

General

cerebellar malformation

References

  1. UniProt :accession Q7RTS3
  2. National Institute of Neurological Disorders and Stroke (NINDS) NINDS Cerebellar Hypoplasia Information Page https://www.ninds.nih.gov/disorders/all-disorders/cerebellar-hypoplasia-information-page