Intellectual Disability Syndrome Due To A Dyrk1a Point Mutation C5679991
A genetic condition caused by changes in the DYRK1A gene, leading to developmental delays and sometimes growth issues. Treatment involves early intervention and supportive care.
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
Intellectual disability due to DYRK1A mutation
(neurologic)Delayed speech development
(neurologic)Behavioral abnormalities
(neurologic)Short stature
(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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
When 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 Intellectual Disability Syndrome Due To A Dyrk1a Point Mutation C5679991?
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, Schultz TL, Weber RL. De novo mutations in DYRK1A cause a recognizable syndrome of intellectual disability with characteristic facial features. Am J Hum Genet. 2018.
van Bon BW, Coe BP, de Vries BB. DYRK1A-related intellectual disability syndrome: A systematic review and proposal of diagnostic criteria. Orphanet J Rare Dis. 2021.
Kearney HM, Thorland EC, Hagman KD. American College of Medical Genetics and Genomics guideline for the interpretation of sequence variants in DYRK1A-related disorders. Genet Med. 2020.
Earl RK, Turner TN, Ego AE. Clinical phenotype of DYRK1A haploinsufficiency: Implications for genetic counseling and clinical management. J Dev Behav Pediatr. 2022.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy