Proximal Xq28 duplication syndrome
Synonyms: MECP2 duplication syndrome | X-linked intellectual disability syndrome, Lubs type
A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterized in males by infantile onset hypotonia severe global developmental delay intellectual disability progressive spasticity seizures gastrointestinal symptoms and recurrent respiratory infections. In females the phenotype is more variable.
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
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Proximal Xq28 duplication syndrome?
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Advocacy Organizations
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.
Lasst uns MDS heilen
Our NPO, based in Austria is dedicating in advancing MECP2 Duplication Syndrome research and inform families. Our missions are: -Accelerate research projects via funding, collaboration, project branding -Inform families about research progresses, adapted therapies and support them psychologically -Raise awareness of rare diseases in general by organisaing events, posting on social media.
MECP2 Duplication Foundation
Our mission is threefold: 1) support families facing MECP2 Duplication Syndrome 2) increase awareness of the disorder 3) fund research for treatments.
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.