Living with Syndromic X-linked intellectual disability 12
An X-linked condition with severe intellectual disability, no speech, seizures, slow growth, and frequent infections.
Understanding Syndromic X-linked intellectual disability 12
People have severe intellectual disability with mutism (not speaking), epilepsy, and slow growth. Repeated infections are common. Facial features can include a square face, a wide mouth, and full lips. Signs may begin in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Not speaking (mutism)
- Seizures
- Slow growth
- Repeated infections
- Square face and wide mouth
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- 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
This condition is X-linked, meaning the gene is on the X chromosome. GARD says the gene has been mapped to the 11p region of the X chromosome but doesn't name it.
Also known as: intellectual disability, x-linked, syndromic 12; syndromic x-linked intellectual disability type 12; x-linked intellectual disability, wilson type
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 Syndromic X-linked intellectual disability 12.
Explore research for Syndromic X-linked intellectual disability 12
Explore actively recruiting Syndromic X-linked intellectual disability 12 studies with HealthSpark.
Find actively recruiting studies for Syndromic X-linked intellectual disability 12 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 Syndromic X-linked intellectual disability 12 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 Syndromic X-linked intellectual disability 12
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 Syndromic X-linked intellectual disability 12 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.