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Hydrolethalus syndrome : ウィキペディア英語版 | Hydrolethalus syndrome
Hydrolethalus syndrome (less commonly referred to as Salonen-Herva-Norio syndrome) is a rare genetic disorder that causes improper fetal development, resulting in birth defects and often stillbirth.〔(E-Notes: Hydrolethalus Syndrome )〕 It is associated with HYLS1 mutations. == Symptoms == Hydrolethalus syndrome can cause heart and brain defects, a cleft lip or palate, an abnormally shaped nose or jaw, or incomplete lung development. These defects are typically serious enough to cause stillbirth or death within a few days of birth.
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「Hydrolethalus syndrome」の詳細全文を読む
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