Living with Intellectual disability, autosomal dominant 47
A rare genetic condition with developmental delay, facial differences, and feeding or reflux problems.
Understanding Intellectual disability, autosomal dominant 47
Facial features can include a high nasal bridge, deep-set eyes, and a wide mouth. Feeding difficulties and acid reflux are common. Seizures, low muscle tone, autistic features, and loose joints have also been reported. It begins during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Feeding difficulties
- Acid reflux
- Autistic behavior
- Deep-set eyes
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 STAG1 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 STAG1 Gene 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 STAG1 gene cause this condition. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene can be enough.
Also known as: intellectual developmental disorder, autosomal dominant 47; stag1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
Patient organizations
- STAG1 Gene FoundationIntellectual disability, autosomal dominant 47 · United States
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