Living with STT3A-congenital disorder of glycosylation
An inherited condition with delayed development, low muscle tone, seizures, and slow weight gain.
Understanding STT3A-congenital disorder of glycosylation
Children have delayed development and intellectual disability, slow weight gain, low muscle tone, and seizures. Feeding problems are common, and some have a small head. Some boys have genital differences such as undescended testes. Signs may begin in the newborn or infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Intellectual disability
- Low muscle tone
- Seizures
- Feeding trouble and slow weight gain
- Small head (microcephaly)
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 STT3A 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 STT3A gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cdg syndrome type iw; cdg-iw; cdg1w; congenital disorder of glycosylation type 1w; congenital disorder of glycosylation type iw; congenital disorder of glycosylation, type iw, autosomal recessive
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 STT3A-congenital disorder of glycosylation.
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