Living with X-linked intellectual disability-cerebellar hypoplasia syndrome
A rare X-linked condition (OPHN1 syndrome) with moderate to severe learning disability and differences in the cerebellum.
Understanding X-linked intellectual disability-cerebellar hypoplasia syndrome
It causes moderate to severe intellectual disability and cerebellar differences. The cerebellum is the part of the brain that helps with coordination. Signs begin in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Moderate to severe intellectual disability
- Global developmental delay
- Poor coordination (ataxia)
- Low muscle tone
- Seizures
- Autistic behavior
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in OPHN1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 OPHN1 Foundation and other patient organizations
- 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 caused by changes in the OPHN1 gene and follows X-linked inheritance.
Also known as: intellectual developmental disorder, x-linked syndromic, billuart type, x-linked recessive; intellectual developmental disorder, x-linked, syndromic, billuart type; oligophrenin-1 syndrome; ophn1 syndrome
Patient organizations
- OPHN1 FoundationX-linked intellectual disability-cerebellar hypoplasia syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked intellectual disability-cerebellar hypoplasia syndrome.
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