Living with Syndromic X-linked intellectual disability 7
An X-linked condition with mild to moderate intellectual disability, obesity, and low hormone function in the testes.
Understanding Syndromic X-linked intellectual disability 7
People have mild to moderate intellectual disability, obesity, and tapering fingers. The testes are small or undescended, and the penis is small. Some also have hair loss, tooth and eyesight differences, speech difficulty, and less muscle strength.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Obesity
- Underactive gonads (hypogonadism)
- Tapering fingers
- Speech that is hard to understand
- Short stature and muscle weakness
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
Changes in genes (variants) cause this condition. It is X-linked, meaning the gene is on the X chromosome. GARD doesn't list which gene.
Also known as: intellectual disability, x-linked syndromic 7; mrxs7; syndromic x-linked intellectual disability type 7; x-linked intellectual disability ahmad type; x-linked intellectual disability, ahmad 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 7.
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