Living with Chromosome 15q13.3 microdeletion syndrome
A small missing piece of chromosome 15 that raises the chance of learning difficulty, seizures, and behavior differences, though some people have no signs.
Understanding Chromosome 15q13.3 microdeletion syndrome
About half of people have learning difficulties or intellectual disability, usually mild or moderate, and many have delayed speech. About one-third have epilepsy. It is linked to behavior problems, autism spectrum disorders, and a higher risk of psychiatric conditions. Some people have no features, and the deletion is found because a relative is affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Simons Searchlight and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says a small piece of chromosome 15 at q13.3 is deleted. It is listed as autosomal dominant, and GARD notes it can be found in relatives with few or no signs.
Also known as: 15q13.3 deletion syndrome; 15q13.3 microdeletion; 15q13.3 microdeletion syndrome; chromosome 15q13.3 deletion syndrome; del(15)(q13.3); microdeletion of chromosome 15q13.3
Patient organizations
- Simons SearchlightChromosome 15q13.3 microdeletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 15q13.3 microdeletion syndrome.
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