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Rubinsteinov-Taybiho syndróm

  1. Subject h.Rubinsteinov-Taybiho syndróm
    Subject h.Rubinstein-Taybi Syndrome
    Entry termssyndróm veľkých palcov na všetkých končatinách
    English X referencesBroad Thumb-Hallux Syndrome
    Scope note in EnglishA chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
    See also reference (FX) in Slovak postihnutie intelektuálne
    See also reference (FX) in English Intellectual Disability
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    (1) - MeSH descriptor
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