SMITH LEMLI OPITZ SYNDROME
\smˈɪθ lˈɛmli ˈɒpɪts sˈɪndɹə͡ʊm], \smˈɪθ lˈɛmli ˈɒpɪts sˈɪndɹəʊm], \s_m_ˈɪ_θ l_ˈɛ_m_l_i_ ˈɒ_p_ɪ_t_s s_ˈɪ_n_d_ɹ_əʊ_m]\
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Autosomal recessive disorder characterized by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities. The biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol.
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.