Angelman syndrome - Symptoms and causes - Mayo Clinic
2024年3月8日 · 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.
Angelman syndrome - Wikipedia
Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. [6] 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. [6]
What is Angelman Syndrome
Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. It is caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the mother.
Angelman Syndrome: What It Is, Symptoms & Treatment - Cleveland Clinic
Angelman syndrome is a rare and complex neurodevelopmental condition that causes developmental delays, intellectual disabilities, speech impairments and movement issues. It’s caused by issues with a specific gene called UBE3A that happens during fetal development.
Angelman Syndrome - Symptoms, Causes, Treatment | NORD
2018年2月14日 · Angelman syndrome is a rare genetic and neurological disorder characterized by severe developmental delay and learning disabilities; absence or near absence of speech; inability to coordinate voluntary movements (ataxia); tremulousness with jerky movements of the arms and legs and a distinct behavioral pattern characterized by a happy dispositio...
Angelman Syndrome Foundation – With you for the journey
The mission of the Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties.
Angelman Syndrome - National Institute of Neurological Disorders and Stroke
2024年7月19日 · Angelman syndrome is a genetic disorder that primarily affects the nervous system. The disorder is named after Dr. Harry Angelman who first reported the syndrome in 1965. Features that help define the disorder include: Developmental delay. Intellectual disability. Severe speech impairment. Problems with movement and balance (ataxia)
Angelman Syndrome > Fact Sheets - Yale Medicine
Angelman syndrome is a rare genetic disorder characterized by severe developmental delay, intellectual disability, speech impairment, and problems with balance and coordination. While the condition is present at birth, developmental delay usually becomes noticeable in babies between 6 and 12 months of age.
Angelman syndrome - Genetics - MedlinePlus
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia).
Angelman Syndrome - GeneReviews® - NCBI Bookshelf
1998年9月15日 · Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and unique behavior with an apparent happy demeanor that includes frequent laughing, smiling, and excitability.
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