DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Synonyms: 21q22.13q22.2 microdeletion syndrome | Del(21)(q22.13q22.2) | Monosomy 21q22.13q22.2
A rare syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech moderate to severe intellectual disability behavioral issues stereotypic behavior febrile seizures and epilepsy abnormal gait vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.
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
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion?
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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.
DYRK1A Syndrome US & International Association
To improve the quality of life for those affected by DYRK1A Syndrome. Through support, education, research and collaboration we are working to improve family life, daily living and clinical care for those with DYRK1A Syndrome. In doing so we also improve the lives of their caregivers and their families.
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.