cerebellar hypoplasia (cerebellar agenesis)

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Genetics

associated with defects in PTF1A gene

More general terms

cerebellar malformation

More specific terms

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

Additional terms

cerebellar dysplasia

References

↑ UniProt http://www.uniprot.org/uniprot/Q7RTS3.html
↑ 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

Patient information

cerebellar hypoplasia patient information

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