Human genes for choreaacanthocytosis
Choreaacanthocytosis [DOID:0050766]
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: choreaacanthocytosis, choreaacanthocytosises, DOID:0050766, choreo-acanthocytosis, Levine-Critchley syndrome ...
Linkouts: OMIM