| Term Name: | choreaacanthocytosis |
|---|---|
| Synonyms: | choreo-acanthocytosis, Levine-Critchley syndrome |
| 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. |
| Ontology: | Human Disease [DOID:0050766] ( DOID:0050766 ) |