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Praderovej-Williho syndróm

  1. Record numberd011218
    Date06.06.2025
    TypeM - MESH
    Topical termPraderovej-Williho syndróm
    Other termEnglish (Pseudonym) Labhart-Willi Syndrome
    English (Pseudonym) Royer Syndrome
    Slovak (Pseudonym) Labhartov-Williho syndróm
    Slovak (Pseudonym) Labhart-Willi syndróm
    Slovak (Pseudonym) Royerov syndróm
    Slovak (Pseudonym) HHHO (hypotonia, hypomentia, hypogonadizmus, obesitas)
    Slovak (Pseudonym) Prader-Willi syndróm
    See also(Skutočné meno) postihnutie intelektuálne
    UDCC10.597.606.360.690C16.131.077.730C16.131.260.700C16.320.180.700C16.320.447.500C18.654.726.750.500.740
    NoteAn autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
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Number of the records: 1  

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