Number of the records: 1  

Williamsov syndróm

  1. Record numberd018980
    Date06.06.2025
    TypeM - MESH
    Topical termWilliamsov syndróm
    Other termEnglish (Pseudonym) Contiguous Gene Syndrome, Williams
    Slovak (Pseudonym) syndróm naliehajúcich génov, Williamsov
    Slovak (Pseudonym) Williamsov-Beurenov syndróm
    Slovak (Pseudonym) Beurenov syndróm
    Slovak (Pseudonym) syndróm supravalvárnej stenózy aorty
    See also(Later heading) elastín
    (Skutočné meno) elastín
    (Skutočné meno) postihnutie intelektuálne
    UDCC10.597.606.360.970C14.280.484.048.750.535.960C16.131.260.970C16.320.180.970
    NoteA 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.
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Number of the records: 1  

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