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 2026
Newly diagnosed with
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion?
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Advocacy Organizations
DYRK1A Syndrome US & International Association
DYRK1A Syndrome US main purpose of improving 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.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
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Clinical Trials
For a list of clinical trials in this disease area, please click here.