ROYER SYNDROME
\ɹˈɔ͡ɪə sˈɪndɹə͡ʊm], \ɹˈɔɪə sˈɪndɹəʊm], \ɹ_ˈɔɪ_ə s_ˈɪ_n_d_ɹ_əʊ_m]\
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A chromosomal disorder associated with a deletion of the proximal portion of the long arm of chromosome 15 (15q11-q13) in the majority of affected individuals. The abnormalities occur exclusively on the paternally derived chromosome 15. Clinical manifestations include MENTAL RETARDATION, muscular hypotonia, OBESITY, hyperphagia, short stature, hypogonadism, strabismus, and hypersomnolence. (Menkes, Textbook of Child Neurology, 5th ed, p229)
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Nearby Words
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