PRADER WILLI SYNDROME
\pɹˈe͡ɪdə wˈɪli sˈɪndɹə͡ʊm], \pɹˈeɪdə wˈɪli sˈɪndɹəʊm], \p_ɹ_ˈeɪ_d_ə w_ˈɪ_l_i 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
- practolol
- prad
- prad1 gene
- prad1 genes
- prad1 protein
- Prader Willi Syndrome
- prae
- prae-
- prae-raphaelite
- praeabdomen
- praeauricular