SEMILOBAR HOLOPROSENCEPHALIES
\sˌɛmɪlˈə͡ʊbɑː hˈɒləpɹˌə͡ʊsənsˌɛfaliz], \sˌɛmɪlˈəʊbɑː hˈɒləpɹˌəʊsənsˌɛfaliz], \s_ˌɛ_m_ɪ_l_ˈəʊ_b_ɑː h_ˈɒ_l_ə_p_ɹ_ˌəʊ_s_ə_n_s_ˌɛ_f_a_l_i_z]\
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Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe MENTAL RETARDATION; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of mental retardation. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild mental retardation to normal. Holoprosencephlay is associated with CHROMOSOME ABNORMALITIES.
By DataStellar Co., Ltd
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.
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