Version: 8.0.0
Date: Tue Jan 28 2025
choreaacanthocytosis
DOID:0050766
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

choreaacanthocytosis

Definition
A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.
Synonyms
  • choreo-acanthocytosis
  • Levine-Critchley syndrome
Cross References
Parent Terms
Child Terms
None
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