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 )

Relationships
is a type of: autosomal recessive disease neuroacanthocytosis