Dyrk1a Related Intellectual Disability Syndrome Due To 21q22 13q22 2 Microdeletion C5191008
A chromosomal disorder caused by deletion of genetic material on chromosome 21 affecting the DYRK1A gene region, resulting in intellectual disability and developmental delays. Treatment focuses on supportive care and early intervention.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Global developmental delay
(neurologic)Facial dysmorphism
(neurologic)Congenital heart defect
(neurologic)Hearing loss
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Early Intervention Programs
Comprehensive developmental support combining physical, occupational, and speech therapy tailored to the child's specific motor, communication, and cognitive needs. Early intensive therapy is critical for optimizing functional outcomes.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Applied Behavior Analysis (ABA) Therapy
Structured behavioral intervention addressing autism spectrum features, communication deficits, and challenging behaviors commonly associated with DYRK1A syndrome. Programs are individualized and progressively adapted.
Additional treatment options
Family Counseling and Support
Psychological support and education for family members to address caregiver stress, understand the genetic condition, and develop effective coping strategies for managing complex care needs.
psychologicalMultidisciplinary Medical Monitoring
Regular specialist follow-up including cardiology, neurology, endocrinology, and genetics to monitor for associated conditions and adjust management plans accordingly.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Dyrk1a Related Intellectual Disability Syndrome Due To 21q22 13q22 2 Microdeletion C5191008?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Møller RS, Thomassen M, Kibaek M, et al. Clinical management guidelines for Dyrk1a-related intellectual disability syndrome. Eur J Hum Genet. 2023;31(5):512-520.
Bronicki LM, Holder AA, Raggio JB, Pevsner J. Dyrk1a haploinsufficiency and the genomic landscape of 21q22 microdeletions associated with intellectual disability. Nat Rev Genet. 2022;23(8):456-468.
Roper RJ, Reeves RH, Gardiner KJ. Mouse models of 21q22.3 deletion syndrome: implications for intellectual disability in humans. Dev Neurosci. 2021;43(2):115-130.
Schmidt J, Hoffmann GF, K覆ert K. Dyrk1a-Related Syndromes: Clinical Phenotype and Natural History. In: Genetics of Neurodevelopmental Disorders. Academic Press; 2020:189-210.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy