15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 8, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 8, 2026
The documentation on chromosome 15q13.3 microdeletion syndrome is limited primarily due to its rarity, affecting fewer than 10,000 individuals in the U.S. This low prevalence results in fewer systematic clinical studies and less comprehensive data. Additionally, the genetic basis remains largely unidentified, complicating the clinical characterization and understanding of the condition.
Key clinical features of chromosome 15q13.3 microdeletion syndrome include intellectual disability (30-79% prevalence), global developmental delay (30-79%), and abnormal pinna morphology (30-79%). Additional features may include atypical behavior, abnormal facial shape, and hypertelorism, with varying frequencies. These symptoms highlight the neurodevelopmental impact of the syndrome, which can significantly affect daily functioning and quality of life.
To navigate chromosome 15q13.3 microdeletion syndrome, consider seeking a geneticist or a neurologist with experience in neurodevelopmental disorders. While there are no specific patient organizations currently identified, you can access resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information. Additionally, inquire about participation in any available registries or natural history studies to contribute to the understanding of this condition.
Currently, there are no orphan drugs designated for chromosome 15q13.3 microdeletion syndrome. However, there is one active clinical trial that may provide insights into the management of this condition. For more information on ongoing research, you can visit ClinicalTrials.gov and search for 'chromosome 15q13.3 microdeletion syndrome'. This trial may offer opportunities for participation and contribute to the understanding of the syndrome.
Actionable guidance for navigating care for chromosome 15q13.3 microdeletion syndrome
To navigate chromosome 15q13.3 microdeletion syndrome, consider seeking a geneticist or a neurologist with experience in neurodevelopmental disorders. While there are no specific patient organizations currently identified, you can access resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for additional support and information. Additionally, inquire about participation in any available registries or natural history studies to contribute to the understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 8, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
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