Living with Glycosylphosphatidylinositol biosynthesis defect 15
A rare genetic condition with developmental delay, early seizures, cerebellum changes, and facial differences, starting in infancy.
Understanding Glycosylphosphatidylinositol biosynthesis defect 15
Features include global developmental delay, early-onset seizures, loss of cerebellum tissue (cerebellar atrophy), thin bones (osteopenia), quick eye movements (nystagmus), and distinct facial features. Slurred speech, poor coordination, an unsteady walk, and stiffness have also been linked to it. It usually starts in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Slurred speech (dysarthria)
- Unsteady walk (gait ataxia)
- Low muscle tone (hypotonia)
- Generalized tonic-clonic seizures
- Shrinking of the cerebellum
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 GPAA1 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 GPAA1 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: developmental delay, epilepsy, cerebellar atrophy, and osteopenia; glycosylphosphatidylinositol anchor attachment 1-related biosynthesis defect; gpaa1-related biosynthesis defect; neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome; neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome
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 Glycosylphosphatidylinositol biosynthesis defect 15.
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