LABHART WILLI PRADER FANCONI SYNDROME
\lˈabhɑːt wˈɪli pɹˈe͡ɪdə fankˈə͡ʊni sˈɪndɹə͡ʊm], \lˈabhɑːt wˈɪli pɹˈeɪdə fankˈəʊni sˈɪndɹəʊm], \l_ˈa_b_h_ɑː_t w_ˈɪ_l_i p_ɹ_ˈeɪ_d_ə f_a_n_k_ˈəʊ_n_i s_ˈɪ_n_d_ɹ_əʊ_m]\
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A chromosomal disorder associated with a deletion of the proximal portion of the long arm of chromosome 15 (15q11-q13) in the majority of affected individuals. The abnormalities occur exclusively on the paternally derived chromosome 15. Clinical manifestations include MENTAL RETARDATION, muscular hypotonia, OBESITY, hyperphagia, short stature, hypogonadism, strabismus, and hypersomnolence. (Menkes, Textbook of Child Neurology, 5th ed, p229)
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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
- labent
- labes
- labetalol
- labetalol hydrochloride
- labetolol
- Labhart Willi Prader Fanconi Syndrome
- labhart willi syndrome
- labia
- labia cerebri
- labia cunni
- labia majora