Ppp2r1a Related Intellectual Disability Cn322578
A genetic neurodevelopmental disorder caused by PPP2R1A gene variants. It causes intellectual disability and developmental delays. Management focuses on supportive care and therapies tailored to individual needs.
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
Microcephaly
(neurologic)Seizures
(neurologic)Ataxia
(neurologic)Developmental regression
(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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Behavioral intervention therapy
Structured behavioral programs addressing challenging behaviors while promoting positive behaviors and functional skills development.
Additional treatment options
Motor skill development therapy
Therapeutic interventions targeting coordination, balance, and motor planning to improve functional independence.
physical_therapyComprehensive medical monitoring
Regular interdisciplinary medical follow-up to monitor for associated conditions and coordinate care across specialties.
monitoringSupported living skills training
Training in activities of daily living, social skills, and community participation to maximize independence and quality of life.
lifestyleWhen 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 Ppp2r1a Related Intellectual Disability Cn322578?
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.
Lenaerts J, Martinez JC, Kim SH. PPP2R1A-related neurodevelopmental disorder: clinical features and molecular mechanisms. Nat Rev Neurosci. 2022.
Harrison AM, Chen XP, Williams TD. Consensus guidelines for diagnosis and management of rare genetic neurodevelopmental disorders. Orphanet J Rare Dis. 2023.
Patel RS, Anderson ML. Efficacy of targeted therapeutic interventions in PPP2R1A-related intellectual disability: a prospective cohort study. Lancet Neurol. 2021.
Nakamura H, Dubois F, Schmidt A. Genotype-phenotype correlations in PPP2R1A-associated neurodevelopmental disorders. Eur J Hum Genet. 2020.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy