RSH SYNDROME
\ˌɑːɹˌɛsˈe͡ɪt͡ʃ sˈɪndɹə͡ʊm], \ˌɑːɹˌɛsˈeɪtʃ sˈɪndɹəʊm], \ˌɑː_ɹ_ˌɛ_s_ˈeɪ_tʃ 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
Health Personnel Attitudes
- Attitudes of personnel toward their patients, other professionals, the medical care system, etc.