Living with X-linked intellectual disability, Cantagrel type
A rare X-linked condition with low muscle tone from birth, severely delayed development, and autism-like behaviors.
Understanding X-linked intellectual disability, Cantagrel type
GARD lists weakness that gets worse in all four limbs, walking at about age 3, acid reflux, repeated hand movements, inward-turning eyes, and early childhood autism. Signs begin in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone from birth
- Severe developmental delay
- Absent speech
- Autistic behavior
- Seizures
- Acid reflux
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 NEXMIF 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 Simons Searchlight
- 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
X-linked intellectual disability, Cantagrel type, is caused by changes in the NEXMIF gene and follows X-linked inheritance.
Also known as: intellectual developmental disorder, x-linked 98; intellectual disability, x-linked 98; intellectual disability, x-linked type 98; kiaa2022-related x-linked mental retardation; x-linked intellectual developmental disorder-98; x-linked intellectual disability-98
Patient organizations
- Simons SearchlightX-linked intellectual disability, Cantagrel type · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked intellectual disability, Cantagrel type.
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