BROAD THUMB HALLUX SYNDROMES
\bɹˈɔːd θˈʌm hˈalʌks sˈɪndɹə͡ʊmz], \bɹˈɔːd θˈʌm hˈalʌks sˈɪndɹəʊmz], \b_ɹ_ˈɔː_d θ_ˈʌ_m h_ˈa_l_ʌ_k_s s_ˈɪ_n_d_ɹ_əʊ_m_z]\
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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
Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.
Nearby Words
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