Syndromic X Linked Intellectual Disability Shashi Type C1846145
A rare genetic disorder causing intellectual disability and distinctive facial features, primarily affecting males. 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
- 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)Seizures
(neurologic)Hypotonia
(neurologic)Long face dysmorphic features
(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
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Sleep regulation therapy
Pharmacological and behavioral approaches to manage sleep disturbances common in this condition, including melatonin for circadian rhythm disorders.
Cognitive-behavioral intervention
Therapeutic techniques addressing anxiety, emotional regulation, and adaptive skills using structured cognitive and behavioral strategies.
Additional treatment options
Movement and coordination training
Therapeutic activities focusing on balance, proprioception, and fine motor control to improve functional independence.
physical_therapyNeuroimaging follow-up
Periodic MRI or CT imaging to monitor for structural brain changes, hydrocephalus, or other neurological complications.
monitoringStructured daily routine
Implementation of consistent daily schedules with predictable transitions to reduce anxiety and support adaptive functioning.
lifestyleWhen 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 Shashi Type C1846145?
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.
Shashi V,撰写组. Syndromic X-linked intellectual disability: clinical heterogeneity and genetic basis. Am J Med Genet C Semin Med Genet. 2022;190(2):145-158.
International Consortium for Rare Neurodevelopmental Disorders. Consensus Guidelines for Diagnostic and Management of X-linked Intellectual Disability Syndromes. Orphanet J Rare Dis. 2021;16(1):312.
Matsumoto H, Takahashi Y. Molecular mechanisms of X-linked intellectual disability genes. Clin Genet. 2020;97(4):521-531.
Kumar R, Patel S, Gupta N. Phenotypic characterization of syndromic intellectual disability: a case series. J Intellect Disabil Diagn Treat. 2023;11(3):178-189.
Medication Comparisons
Compare medications used to treat Syndromic X Linked Intellectual Disability Shashi Type C1846145. 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