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 April 2024
Newly diagnosed with
2q23.1 microdeletion syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.