Number of the records: 1  

Williamsov syndróm

  1. Subject h.Williamsov syndróm
    Subject h.Williams Syndrome
    Entry termssyndróm naliehajúcich génov, Williamsov
    Williamsov-Beurenov syndróm
    Beurenov syndróm
    syndróm supravalvárnej stenózy aorty
    English X referencesContiguous Gene Syndrome, Williams
    Scope note in EnglishA disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
    See also reference (FX) in Slovak elastín
    postihnutie intelektuálne
    See also reference (FX) in English Elastin
    Intellectual Disability
    Links (17) - ARTICLES
    (2) - MeSH descriptor
    (7) - CiBaMed
    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