TYPUS DEGENERATIVUS AMSTELODAMENSIS
\tˈa͡ɪpəs dɪd͡ʒˈɛnəɹˌatɪvəs ˌamstɪlədˈe͡ɪmnsɪs], \tˈaɪpəs dɪdʒˈɛnəɹˌatɪvəs ˌamstɪlədˈeɪmnsɪs], \t_ˈaɪ_p_ə_s d_ɪ_dʒ_ˈɛ_n_ə_ɹ_ˌa_t_ɪ_v_ə_s ˌa_m_s_t_ɪ_l_ə_d_ˈeɪ_m_n_s_ɪ_s]\
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A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)
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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
- typology
- typonym
- typorama
- typothetae
- typtology
- Typus Degenerativus Amstelodamensis
- tyr
- tyr ala gly (nme)phe gly ol
- tyr ala gly mephe met oh
- tyr transfer rna
- tyr trna ligase