RUBINSTEIN TAYBI SYNDROME
\ɹˈuːbɪnstˌa͡ɪn tˈe͡ɪba͡ɪ sˈɪndɹə͡ʊm], \ɹˈuːbɪnstˌaɪn tˈeɪbaɪ sˈɪndɹəʊm], \ɹ_ˈuː_b_ɪ_n_s_t_ˌaɪ_n t_ˈeɪ_b_aɪ s_ˈɪ_n_d_ɹ_əʊ_m]\
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A 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).
By DataStellar Co., Ltd
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Nearby Words
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