Term Name: | choreaacanthocytosis |
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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 ) |