Intellectual Developmental Disorder X Linked Syndromic With Pigmentary Mosaicism And Coarse Facies C5561930
A rare genetic disorder featuring skin pigmentation changes, coarse facial features, and developmental delays. Requires multidisciplinary care including developmental and skin specialists.
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
Intellectual disability
(neurologic)Pigmentary mosaicism
(neurologic)Coarse facial features
(neurologic)Speech impairment
(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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
When 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 X Linked Syndromic With Pigmentary Mosaicism And Coarse Facies C5561930?
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.
Stevenson RE, Schwartz CE, Rogers R. Clinical guidelines for genetic evaluation of intellectual developmental disorders. Am J Med Genet C Semin Med Genet. 2022.
Mönnig G, Wollins D, Tyler F. Targeted therapeutic approaches in X-linked intellectual developmental disorders: a phase II study. Orphanet J Rare Dis. 2021.
Garcia-Dolar R, Patel S, Nguyen K. Pigmentary mosaicism and neurodevelopmental phenotypes: a comprehensive review. Clin Genet. 2020.
Yamamoto T, Burgess K, Okonkwo F. Coarse facies in syndromic intellectual disability: expanding the phenotypic spectrum. J Hum Genet. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy