2q23.1 microdeletion syndrome

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2q23.1 microdeletion syndrome

Synonyms: Del(2)(q23.1) | Monosomy 2q23.1 | Pseudo-Angelman syndrome

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay behavioral abnormalities including hyperactivity and inappropriate laughter short stature and seizures.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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2q23.1 microdeletion syndrome?

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Advocacy Organizations

2q23.1/MAND Caregiver Support Group

The 2q23.1/MBD5 Disorders/MAND page is dedicated to improving the lives of individuals born with MBD5 differences (deletions, duplications, variants, or disruptions) and other anomalies encompassed within the genetic region of 2q23.1. We foster an engaged, knowledgeable, and welcoming worldwide community by providing access to support and resources, promoting advocacy, and funding research.

Clinical Trials

For a list of clinical trials in this disease area, please click here.