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Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep problems. … 展开
Signs and symptoms of Angelman syndrome and their relative frequency in affected individuals are:
Consistent (100%) 展开The electroencephalogram (EEG) in AS is usually abnormal, more so than clinically expected. This EEG facilitates the differential diagnosis of … 展开
The diagnosis of Angelman syndrome is based on:
• A history of delayed motor milestones and then later a delay in … 展开There is currently no approved cure available. The epilepsy can be controlled by the use of one or more types of anticonvulsant medications. … 展开
Though the prevalence of Angelman syndrome is not precisely known, there are some estimates. The best data available are from studies … 展开
CC-BY-SA 许可证中的维基百科文本 Angelman syndrome - Symptoms and causes - Mayo Clinic
在mayoclinic.org上查看更多信息Angelman syndrome is a condition caused by a change in a gene, called a genetic change. Angelman syndrome causes delayed development, problems with speech and balance, mental disability, and, sometimes, seizures. Many people with Angelman syndrome smile and laugh often. They tend to be happy and easy to e…- 发布日期: 2022年3月1日
What is Angelman Syndrome
Angelman syndrome (AS) is a condition that causes developmental delay, seizures, lack of speech and a happy demeanor. It is named after Dr. Harry Angelman, who first described it in …
Angelman Syndrome - Symptoms, Causes, Treatment | NORD
2018年2月14日 · Infants and children with Angelman syndrome have a distinct behavioral pattern marked by a happy demeanor with frequent and often inappropriate episodes of unprovoked, …
Rare disease: Happy Puppet syndrome - PMC - National Center for ...
2011年10月28日 · Happy Puppet syndrome is characterised by a partial deficit of paired autosomal chromosome 15. It is a neuro-genetic disorder characterised by intellectual and …
Angelman syndrome - MedlinePlus
Angelman syndrome is a complex condition that affects the nervous system and causes intellectual disability, speech impairment, and seizures. It is often associated with a happy, …
卡尔曼氏综合征：症状与体征、病因、流行病学、诊断和治疗
2023年5月8日 · 卡尔曼综合征，Kallmann Syndrome，也称特发性低促性腺激素性性腺功能减退症伴嗅觉缺失，孤立性 GnRH 缺乏症，是一种具有临床及遗传异质性的疾病。. 另外，与之十分 …
快乐木偶综合征，你听说过吗？ - 丁香园
2018年5月1日 · Angelman 综合征（Angelman syndrome,AS）是一种较为少见的神经发育性疾病，发病率为 1/40000～1/10000。 临床表现为严重的智力障碍、发育迟滞、共济失调、癫痫、 …
Angelman syndrome - NHS
Angelman syndrome is a rare genetic condition that affects the nervous system and causes severe physical and learning disabilities. A person with Angelman syndrome will have a near …
Angelman综合征（天使综合征）：症状和体征，病因，流行病学…
Angelman综合征(AS)，又称天使综合征（ happy puppet syndrome）或快乐木偶综合征（ obsolete），是由母源15号染色体q11-13上的印记基因缺陷导致的一种神经发育性疾病。新生 …
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