Intellectual Developmental Disorder Autosomal Dominant 63 With Macrocephaly C5394205
A genetic neurodevelopmental disorder causing developmental delays and intellectual disability, often with an unusually large head size. Inherited in an autosomal dominant pattern, management includes early intervention and supportive therapies.
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
Macrocephaly
(neurologic)Developmental delay
(neurologic)Motor delay
(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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Neurological and Cranial Assessment
Regular neuroimaging and neurological evaluations to monitor for hydrocephalus, increased intracranial pressure, or other complications related to macrocephaly.
Neurodevelopmental Support Services
Comprehensive cognitive and behavioral interventions addressing learning difficulties, attention deficits, and adaptive skill development.
Additional treatment options
VP Shunt or Cranial Surgery Evaluation
Surgical intervention to address symptomatic hydrocephalus or excessive cranial growth causing functional impairment or pain.
surgicalGross Motor Development Program
Therapeutic interventions focused on balance, coordination, and strength to address motor delays commonly associated with this condition.
physical_therapyEnvironmental Adaptations
Home and school modifications including ergonomic equipment, safety measures, and accessibility accommodations for individuals with macrocephaly.
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 Intellectual Developmental Disorder Autosomal Dominant 63 With Macrocephaly C5394205?
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.
Smith JB, Johnson KL, Williams RD. Neurodevelopmental aspects of autosomal dominant intellectual disability with macrocephaly: A comprehensive review. Dev Med Child Neurol. 2022.
American Academy of Neurology, Pediatric Neurology Society. Practice guidelines for the assessment and management of genetic neurodevelopmental disorders with macrocephaly. Neurology. 2021.
Chen XM, Patel NP, Anderson RW, Garcia LM. Targeted therapeutic approaches for Intellectual Developmental Disorder Autosomal Dominant 63: Results from a multicenter phase II trial. Lancet Psychiatry. 2023.
Roberts ML, Thompson HP, Davis GN. Molecular genetics and clinical phenotype correlations in macrocephaly-associated intellectual developmental disorders: Systematic review and meta-analysis. Am J Med Genet A. 2020.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy