Living with Intellectual disability, autosomal dominant 29
A genetic condition with speech and language problems, intellectual disability, and distinct facial features.
Understanding Intellectual disability, autosomal dominant 29
Vocabulary and speech production are generally more affected than understanding speech. About 80 percent of affected children have childhood apraxia of speech, which makes mouth movements for speech hard. Intellectual disability ranges from mild to moderate.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Little or no speech
- Delayed speech and language
- Drooping upper eyelid (ptosis)
- Farsightedness
- High palate
- Broad big toe
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 SETBP1 Society 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 it is inherited in an autosomal dominant pattern, meaning one changed copy of the gene can be enough. The name points to the SETBP1 gene.
Also known as: autosomal dominant intellectual disability 29; intellectual developmental disorder, autosomal dominant 29; intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in setbp1; intellectual disability, autosomal dominant type 29; mrd29; setbp1 haploinsufficiency disorder
Patient organizations
- SETBP1 SocietyIntellectual disability, autosomal dominant 29 · United States
- Simons SearchlightIntellectual disability, autosomal dominant 29 · United States
You are more than your diagnosis
Perspectives from people navigating life with Intellectual disability, autosomal dominant 29.
Explore research for Intellectual disability, autosomal dominant 29
Explore actively recruiting Intellectual disability, autosomal dominant 29 studies with HealthSpark.
Find actively recruiting studies for Intellectual disability, autosomal dominant 29 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Intellectual disability, autosomal dominant 29 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Intellectual disability, autosomal dominant 29
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Intellectual disability, autosomal dominant 29 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.