15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neur...
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding chromosome 15q11.2 deletion syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This scarcity restricts the availability of systematic clinical studies and comprehensive data collection. Additionally, the variable expressivity of the condition complicates the characterization of its phenotypes, making it challenging to establish a complete clinical picture.
Key clinical features of chromosome 15q11.2 deletion syndrome include motor delay (30-79% prevalence), delayed speech and language development (30-79%), and reduced social responsiveness (30-79%). Other notable symptoms may include psychosis (5-29%), strabismus (5-29%), short stature (5-29%), seizures (5-29%), and coarse facial features (5-29%). These symptoms can vary widely in severity and manifestation, reflecting the condition's variable expressivity.
To find appropriate care, consider seeking a geneticist or a neurologist with expertise in neurodevelopmental disorders. These specialists can provide insights into managing symptoms and potential developmental interventions. Additionally, you may explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information and support. Although there are currently no patient organizations specifically for this condition, engaging in clinical trials may offer additional avenues for support and research participation.
Currently, there is one active clinical trial related to chromosome 15q11.2 deletion syndrome. For more information on ongoing studies, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=chromosome%2015q11.2%20deletion%20syndrome. Participation in clinical trials may provide access to new therapeutic strategies and contribute to the understanding of this condition.
Actionable guidance for navigating care for chromosome 15q11.2 deletion syndrome
To find appropriate care, consider seeking a geneticist or a neurologist with expertise in neurodevelopmental disorders. These specialists can provide insights into managing symptoms and potential developmental interventions. Additionally, you may explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information and support. Although there are currently no patient organizations specifically for this condition, engaging in clinical trials may offer additional avenues for support and research participation.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding chromosome 15q11.2 deletion syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This scarcity restricts the availability of systematic clinical studies and comprehensive data collection. Additionally, the variable expressivity of the condition complicates the characterization of its phenotypes, making it challenging to establish a complete clinical picture.
Key clinical features of chromosome 15q11.2 deletion syndrome include motor delay (30-79% prevalence), delayed speech and language development (30-79%), and reduced social responsiveness (30-79%). Other notable symptoms may include psychosis (5-29%), strabismus (5-29%), short stature (5-29%), seizures (5-29%), and coarse facial features (5-29%). These symptoms can vary widely in severity and manifestation, reflecting the condition's variable expressivity.
To find appropriate care, consider seeking a geneticist or a neurologist with expertise in neurodevelopmental disorders. These specialists can provide insights into managing symptoms and potential developmental interventions. Additionally, you may explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information and support. Although there are currently no patient organizations specifically for this condition, engaging in clinical trials may offer additional avenues for support and research participation.
Currently, there is one active clinical trial related to chromosome 15q11.2 deletion syndrome. For more information on ongoing studies, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=chromosome%2015q11.2%20deletion%20syndrome. Participation in clinical trials may provide access to new therapeutic strategies and contribute to the understanding of this condition.
Actionable guidance for navigating care for chromosome 15q11.2 deletion syndrome
To find appropriate care, consider seeking a geneticist or a neurologist with expertise in neurodevelopmental disorders. These specialists can provide insights into managing symptoms and potential developmental interventions. Additionally, you may explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information and support. Although there are currently no patient organizations specifically for this condition, engaging in clinical trials may offer additional avenues for support and research participation.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding chromosome 15q11.2 deletion syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This scarcity restricts the availability of systematic clinical studies and comprehensive data collection. Additionally, the variable expressivity of the condition complicates the characterization of its phenotypes, making it challenging to establish a complete clinical picture.
Key clinical features of chromosome 15q11.2 deletion syndrome include motor delay (30-79% prevalence), delayed speech and language development (30-79%), and reduced social responsiveness (30-79%). Other notable symptoms may include psychosis (5-29%), strabismus (5-29%), short stature (5-29%), seizures (5-29%), and coarse facial features (5-29%). These symptoms can vary widely in severity and manifestation, reflecting the condition's variable expressivity.
To find appropriate care, consider seeking a geneticist or a neurologist with expertise in neurodevelopmental disorders. These specialists can provide insights into managing symptoms and potential developmental interventions. Additionally, you may explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information and support. Although there are currently no patient organizations specifically for this condition, engaging in clinical trials may offer additional avenues for support and research participation.
Currently, there is one active clinical trial related to chromosome 15q11.2 deletion syndrome. For more information on ongoing studies, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=chromosome%2015q11.2%20deletion%20syndrome. Participation in clinical trials may provide access to new therapeutic strategies and contribute to the understanding of this condition.
Actionable guidance for navigating care for chromosome 15q11.2 deletion syndrome
To find appropriate care, consider seeking a geneticist or a neurologist with expertise in neurodevelopmental disorders. These specialists can provide insights into managing symptoms and potential developmental interventions. Additionally, you may explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information and support. Although there are currently no patient organizations specifically for this condition, engaging in clinical trials may offer additional avenues for support and research participation.
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.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 2 companies have orphan drug designations for this disease
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