Living with Syndromic X-linked intellectual disability Hedera type
An X-linked condition starting in infancy with delayed development, seizures, and mild to moderate intellectual disability.
Understanding Syndromic X-linked intellectual disability Hedera type
Infants have delayed motor and speech milestones. They have generalized tonic-clonic seizures and drop attacks, along with mild to moderate intellectual disability. Less common features include a curved spine, balance problems that cause progressive trouble walking, and flat feet. Physical appearance is typical, with no unusual facial features reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and motor skills
- Seizures, including drop attacks
- Mild to moderate intellectual disability
- Unsteady walk
- Muscle stiffness
- Lowered reflexes
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 ATP6AP2 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 Epilepsy Foundation
- 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 ATP6AP2 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, hedera type; intellectual developmental disorder, x-linked, syndromic, hedera type, x-linked recessive; intellectual disability, x-linked, syndromic, hedera type; mrxe; mrxsh; x-linked intellectual disability hedera type
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- 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 Hedera type.
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