Living with Intellectual disability, autosomal dominant 30
A rare genetic condition with developmental and speech delay, behavior and social challenges, and sometimes seizures or hearing loss.
Understanding Intellectual disability, autosomal dominant 30
It can also include aggressive behavior and mood swings in childhood, unusual facial features, autism spectrum disorder, low muscle tone, epilepsy, and deafness. The loss of this gene may also cause some features of the 10p15.3 microdeletion syndrome.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Mild intellectual disability
- Low muscle tone (hypotonia)
- Delayed movement skills
- Aggressive behavior
- Trouble with social interactions
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 rare disease patient organizations for support
- 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
Changes in the ZMYND11 gene cause this condition. Inheritance seems to be autosomal dominant, meaning one changed copy of the gene can be enough.
Also known as: autosomal dominant intellectual disability 30; intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities; intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in zmynd11; intellectual disability, autosomal dominant type 30; mrd30; zmynd11 intellectual disability-expressive aphasia-facial dysmorphism syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Intellectual disability, autosomal dominant 30.
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