SMITH LEMLI OPITZ SYNDROME, TYPE I
\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
Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.
Nearby Words
- smite
- smiter
- smith
- smith college
- smith lemli opitz syndrome
- Smith Lemli Opitz Syndrome, Type I
- smith lemli opitz syndrome, type ii
- smith's disease
- smith's disease's sign
- smith's fracture
- smith's operation