天使男综合症

R. Kumar, Anushi Singh
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引用次数: 1

摘要

天使人综合症是一种罕见的遗传和神经系统疾病,其特征是严重的发育迟缓和学习障碍。虽然,那些被诊断患有这种综合症的人可能不会说话,但许多人逐渐学会通过其他方式交流,比如手语。其他症状还包括癫痫发作、睡眠障碍和进食困难。一些天使男综合症的儿童可能有明显的面部特征,但主要是面部特征反映了正常的父母特征。天使人综合征是由UBE3A基因缺失或异常表达引起的。
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Angel man Syndrome
Angel man syndrome is a rare genetic and neurological disorder which is characterized by severe developmental delays and learning disabilities. Although, those diagnosed with the syndrome may be unable to speak, but many gradually learn to communicate through other means such as sign language. Additional symptoms also include seizures, sleep disorders and feeding difficulties. Some children with Angel man syndrome may have distinctive facial features, but mainly facial features reflect the normal parental traits. Angel man syndrome is caused by deletion or abnormal expression of the UBE3A gene.
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