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]\
Sort: Oldest first
-
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
Snake's-head
- Guinea-hen flower; -- so called in England because its spotted petals resemble the scales of a snake's head.
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