Number of the records: 1  

neuroakantocytóza

  1. Record numberd054546
    Date06.06.2025
    TypeM - MESH
    Topical termneuroakantocytóza
    Other termEnglish (Pseudonym) Choreoacanthocytosis
    Slovak (Pseudonym) choreoakantocytóza
    UDCC10.228.662.262.249.937C16.320.400.550
    NoteAn inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYSKINESIAS; CHOREA; and thorny-looking red cells (ACANTHOCYTES). This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21.
    subject heading

    subject heading

Number of the records: 1  

  This site uses cookies to make them easier to browse. Learn more about how we use cookies.

Accept allSettingsReject all