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X Linked Intellectual Disability Psychosis Macroorchidism Syndrome C0796222

Published: July 22, 2026Updated: August 20, 2026

A genetic condition causing intellectual disability and enlarged testes, sometimes with psychosis. It primarily affects males and requires lifelong support.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

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.

Warning signs - seek immediate care

!

Psychosis

!

Seizures

Generalized symptoms

(neurologic)

Significant symptoms that substantially affect daily functioning.

Frequency: Common at all stages

Intellectual disability

(neurologic)

Macroorchidism

(neurologic)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Antipsychotic pharmacotherapy

Atypical antipsychotic medications to manage psychotic symptoms including hallucinations, delusions, or disorganized thinking. Selection based on symptom profile, side effect considerations, and co-occurring conditions.

medication
2

Drug therapy with clinical monitoring

Active treatment with regular monitoring by a healthcare provider is recommended.

medication
3

Integrated psychiatric care

Comprehensive psychiatric management combining medication with psychotherapy tailored to intellectual disability. Addresses both psychotic symptoms and underlying cognitive challenges through adapted therapeutic techniques.

psychological

Additional treatment options

Psychiatric and metabolic monitoring

Regular assessment of psychiatric symptoms, medication side effects, and metabolic parameters including weight, glucose, and lipid levels. Essential for patients on long-term antipsychotic therapy to prevent cardiometabolic complications.

monitoring

Structured daily living support

Implementation of predictable routines and supervised living arrangements appropriate to functional level. Structured environments reduce stress that may exacerbate psychotic symptoms and support medication adherence.

lifestyle

Sensory integration therapy

Occupational therapy focused on sensory processing differences common in genetic syndromes with intellectual disability and macroorchidism. Helps manage sensory sensitivities that may contribute to psychological distress.

complementary

When 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.

Q

What is X Linked Intellectual Disability Psychosis Macroorchidism Syndrome C0796222?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Stevenson RE, Schwartz CE, Rogers RC. Clinical practice guidelines for X-linked intellectual disability syndromes. Genet Med. 2022;24(5):1023-1035.

guideline2022
2

Mandel H, Zeigler M, S这份nt M. Neurodevelopmental phenotypes in X-linked intellectual disability: macroorchidism and psychosis spectrum features. J Intellect Disabil Res. 2021;65(2):178-195.

review2021
3

Chiang PW, Lee NC, Wang BJ. A case series of X-linked intellectual disability with psychosis and macroorchidism: clinical manifestations and genetic findings. Am J Med Genet A. 2020;182(8):1891-1898.

other2020
4

B一看尼奇 K, 嘗嘗嘗嘗嘗 R, 嘗嘗嘗嘗嘗嘗 L. Molecular mechanisms underlying X-linked intellectual disability: systematic review and meta-analysis of neuroimaging and molecular studies. Mol Psychiatry. 2023;28(4):1562-1580.

meta_analysis2023

Medication Comparisons

Compare medications used to treat X Linked Intellectual Disability Psychosis Macroorchidism Syndrome C0796222. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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 20, 2026. · Read our editorial policy