Living with Syndromic X-linked intellectual disability 34
An X-linked condition with delayed development, large head, low muscle tone, and sometimes a heart muscle difference.
Understanding Syndromic X-linked intellectual disability 34
Children have delayed motor skills and language, a large head, low muscle tone, and facial differences such as a long face. Many have left ventricular noncompaction, a heart muscle difference. There can also be a curved spine, flat feet, crossed eyes, and a shy manner. A form with no heart involvement has been reported. Signs may begin in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed motor and language skills
- Mild intellectual disability
- Low muscle tone
- Heart muscle difference (left ventricle)
- Long face and narrow nasal bridge
- Curved spine and flat feet
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.
- 3Consider genetic testing
Changes in NONO are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
Changes in the NONO gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: intellectual developmental disorder, x-linked syndromic 34; intellectual disability, x-linked, syndromic 34; intellectual disability, x-linked, syndromic type 34; macrocephaly-intellectual disability-left ventricular non compaction syndrome; mrxs34; mrxsml
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 34.
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