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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion?
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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.
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.
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.