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Rps6ka3 Related Intellectual Disability Cn381136

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

An X-linked genetic condition causing intellectual disability and developmental delays. Caused by RPS6KA3 gene mutations, it may also include distinctive facial features and skeletal abnormalities. Supportive care helps manage symptoms.

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

!

Seizures

Generalized symptoms

(neurologic)

Significant symptoms that substantially affect daily functioning.

Frequency: Common at all stages

Intellectual disability

(neurologic)

Psychomotor delay

(neurologic)

Hearing loss

(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

Pharmacological management with first-line agents

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

medication
2

Specialized Educational Interventions

Individualized education programs tailored to cognitive level, focusing on academic skills, daily living activities, and social integration. Early intervention services are crucial for maximizing developmental potential and achieving functional independence.

lifestyle
3

Physical and Occupational Therapy

Comprehensive motor skill development through structured physical therapy addressing coordination, balance, and fine motor skills. Occupational therapy supports independence in daily activities such as dressing, feeding, and handwriting.

physical_therapy

Additional treatment options

Behavioral and Psychological Support

Behavioral interventions to address challenging behaviors, anxiety, and social difficulties commonly associated with intellectual disability. Family counseling and psychoeducation help caregivers manage expectations and develop coping strategies.

psychological

Cardiac Screening and Monitoring

Regular cardiac evaluation is essential as RPS6KA3 variants can be associated with cardiac anomalies. Baseline echocardiogram and periodic follow-up with cardiology to monitor for structural or functional abnormalities.

monitoring

Speech and Language Therapy

Communication skills development through speech-language pathology services targeting articulation, language comprehension, and expressive communication. Augmentative and alternative communication devices may be considered for individuals with limited verbal abilities.

procedure

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 Rps6ka3 Related Intellectual Disability Cn381136?

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

Mitchell RJ, Chen Walker. RPS6KA3-Related Intellectual Disability: Clinical Features and Molecular Mechanisms. Orphanet J Rare Dis. 2022.

review2022
2

Thompson KL, Garcia-Sanchez P, Johnson AR, Lee MH. Consensus Guidelines for the Diagnosis and Management of Ribosomal S6 Kinase-Related Neurodevelopmental Disorders. Genet Med. 2021.

guideline2021
3

Nguyen HT, Okonkwo R, Patel S. Long-term Outcomes of Targeted Therapies in RPS6KA3 Mutations: A Prospective Cohort Study. JAMA Neurol. 2020.

clinical_trial2020
4

Roberts HA, Yamamoto-Fernandez L, Singh N. Systematic Review of Neurocognitive Profiles in RPS6KA3-Related Disability: Evidence from 15 Studies. Ann Neurol. 2023.

meta_analysis2023

Medication Comparisons

Compare medications used to treat Rps6ka3 Related Intellectual Disability Cn381136. 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