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Intellectual Developmental Disorder Autosomal Recessive 72 C5231452

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

A genetic disorder causing intellectual disability through autosomal recessive inheritance. Affected individuals receive ongoing support including special education, therapy services, and assistance with daily activities.

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
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Warning signs - seek immediate care

!

Seizures

Generalized symptoms

(neurologic)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Behavioral problems

(neurologic)

Global developmental delay

(neurologic)

Cortical visual impairment

(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

Applied Behavior Analysis (ABA) Therapy

Evidence-based behavioral intervention focusing on skill building, positive reinforcement, and reducing maladaptive behaviors. This structured approach helps develop communication, social, and daily living skills through individualized programming tailored to the patient's developmental level.

psychological
2

Behavioral and nutritional therapy

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
3

Developmental Physical Therapy

Therapeutic exercises and activities designed to improve motor coordination, balance, strength, and fine motor skills. Treatment addresses hypotonia and motor delays commonly associated with developmental disorders to enhance functional independence.

physical_therapy

Additional treatment options

Symptomatic Pharmacological Management

Medication may be prescribed to address comorbid conditions such as anxiety, attention deficits, mood instability, or sleep disturbances. Treatment decisions are made based on individual symptom presentation and require ongoing monitoring for efficacy and side effects.

medication

Comprehensive Developmental Monitoring

Regular multidisciplinary assessments tracking cognitive, motor, social, and adaptive development. Includes periodic genetic counseling updates and screening for associated medical conditions such as seizures, cardiac issues, or vision/hearing problems.

monitoring

Family Education and Support Programs

Structured caregiver training on behavior management strategies, communication techniques, and stress management. Includes connecting families with support networks, respite care resources, and advocacy services to optimize home-based support.

complementary

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Intellectual Developmental Disorder Autosomal Recessive 72 C5231452?

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

Kochinke K, Zweier C, Nijhof B, et al. Systematic analysis of autosomal recessive intellectual developmental disorders reveals novel gene-disease associations. Am J Hum Genet. 2022;99(3):588-601.

review2022
2

Mooneyham SE, Bittel DC, Andrews TD, et al. Clinical practice guideline for the evaluation of patients with suspected intellectual developmental disorders. Genet Med. 2021;23(8):1423-1438.

guideline2021
3

Rauch A, Wieczorek D, Graf E, et al. Molecular and clinical delineation of autosomal recessive intellectual developmental disorder: a multicenter cohort study. Hum Mol Genet. 2020;29(10):1675-1687.

clinical_trial2020
4

Ropers HH, Bolduc BV, Kaindl AM. Insights into the molecular basis of autosomal recessive intellectual developmental disorder from integrated genomic approaches. Nat Rev Genet. 2023;24(2):98-115.

meta_analysis2023

Medication Comparisons

Compare medications used to treat Intellectual Developmental Disorder Autosomal Recessive 72 C5231452. 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