Angelman syndrome

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Angelman syndrome

[′aŋ·gəl·mən ‚sin‚drōm]
(medicine)
A genetic disorder that is caused by defects on the maternally derived chromosome 15, causing severe mental retardation, absence of speech, microcephaly, facial dysmorphism, seizures, neonatal hypotonia, ataxic movements, and inappropriate laughter.
References in periodicals archive ?
As previously reported in the Advertiser, the couple's son Paul was diagnosed with Angelman syndrome shortly after his birth and was only 25 when he died in 2016.
Gareth, 27, from Fintry, Dundee, - who has a rare genetic order called Angelman syndrome and has the mental age of a four-year-old - was attending a Thomas the Tank-themed event at Brechin's Caledonian Railway.
Fact.MR has announced the addition of the "Angelman Syndrome Treatment Market Forecast, Trend Analysis & Competition Tracking - Global Review 2018 to 2028"report to their offering.
(NASDAQ: RARE) and GeneTx Biotherapeutics LLC have forged a partnership to develop GeneTx's GTX-102, an antisense oligonucleotide for the treatment of Angelman syndrome, the companies said.
ENPNewswire-August 15, 2019--Ultragenyx Announces Partnership with GeneTx to Advance Treatment for Angelman Syndrome
Ultragenyx Pharmaceutical and GeneTx Biotherapeutics announced a partnership to develop GeneTx's GTX-102, an antisense oligonucleotide for the treatment of Angelman syndrome, a serious, debilitating, rare neurogenetic disorder that affects approximately 1 in 15,000 people worldwide.
Jake Edwards-Owen has Angelman Syndrome, a condition which affects only around 3,000 people in Britain.
Angelman syndrome is a rare genetic disorder that primarily affects the nervous system.
Summary: Angelman syndrome is a rare genetic disorder that primarily affects the nervous system.
Saturday, May 18, to support the Angelman Syndrome Foundation in its search to find a cure for Angelman Syndrome, a neurodevelopment disorder similar to autism.
Also called the Angelman Syndrome, it is a chromosome defect that causes acute learning difficulties besides issues with speech, movement and coordination.