Living with Intellectual disability, autosomal dominant 42
A genetic condition with global developmental delay, low muscle tone, seizures, and slow growth.
Understanding Intellectual disability, autosomal dominant 42
People have trouble learning new things and building skills at the same pace as others their age. Other symptoms include low muscle tone, seizures, and poor growth. Some people also have crossed eyes, reduced vision, and autistic traits.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Delayed expressive language
- Low muscle tone (hypotonia)
- Feeding difficulties
- Poor weight gain (failure to thrive)
- Slow growth
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, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in GNB1 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); Eye disease specialists (ophthalmologists); 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 Simons Searchlight 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
Mutations in the GNB1 gene cause this condition. It is inherited in an autosomal dominant pattern, so one changed copy is enough. Most cases are new in a family (de novo).
Also known as: autosomal dominant intellectual disability 42; global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome; gnb1-related disorder; gnb1-related neurodevelopmental disorder; intellectual developmental disorder, autosomal dominant 42; intellectual disability, autosomal dominant type 42
Patient organizations
- Simons SearchlightIntellectual disability, autosomal dominant 42 · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Intellectual disability, autosomal dominant 42.
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