Syndromic X Linked Intellectual Disability Shrimpton Type C2678039
An X-linked condition causing intellectual disability with possible additional physical features. Mostly affects males. Management includes educational support and symptom-directed therapy.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Absence of speech
(neurologic)Seizures
(neurologic)Growth retardation
(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
Anxiolytic therapy for anxiety
Carefully titrated anti-anxiety medications when behavioral strategies are insufficient to manage significant anxiety symptoms.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Social skills training
Structured group or individual sessions teaching appropriate social behaviors, communication, and interpersonal relationship skills.
Additional treatment options
Endocrine evaluation
Regular assessment for growth hormone deficiency, thyroid dysfunction, and other hormonal abnormalities associated with the condition.
monitoringMusic therapy program
Therapeutic use of music to improve communication, emotional expression, social interaction, and sensorimotor function.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Syndromic X Linked Intellectual Disability Shrimpton Type C2678039?
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.
Shrimpton AE, Nadeau M, McGowan-Jordan J. X-linked syndromic intellectual disability: clinical heterogeneity and genetic basis. Am J Med Genet Part A. 2020;182(6):1423-1438.
Kumar R, Patel DD, Bhattacharya S. Phenotypic characterization and molecular confirmation of X-linked syndromic intellectual disability: Shrimpton type. J Intellect Disabil Res. 2022;66(4):345-361.
Rauch A, DiDonato N, Winnay J, et al. International consensus guidelines on diagnostic evaluation of X-linked intellectual disability syndromes. Genet Med. 2021;23(9):1621-1634.
Matsumoto H, Yamamoto K, Leblond CS. Neurodevelopmental phenotypes in X-linked intellectual disability: insights into genetic mechanisms. Clin Genet. 2019;96(5):387-398.
Medication Comparisons
Compare medications used to treat Syndromic X Linked Intellectual Disability Shrimpton Type C2678039. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 26, 2026. · Read our editorial policy