Living with Intellectual disability, autosomal dominant 43
A genetic condition with moderate to severe developmental delay, low muscle tone, and unsteady walking (HIVEP2-related).
Understanding Intellectual disability, autosomal dominant 43
Early signs include weak muscle tone and delayed skills such as sitting, standing, and walking. Many people keep having trouble walking, with a wide-based, unbalanced gait. Speech is delayed, and some people never learn to talk. Most have mild physical differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- No speech
- Acid reflux
- Aggressive behavior
- Weak muscle tone
- Unsteady, wide-based walk
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 Simons Searchlight
- 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
GARD says it is inherited in an autosomal dominant pattern, meaning one changed copy of the gene can be enough. The name points to the HIVEP2 gene.
Also known as: autosomal dominant intellectual disability 43; autosomal dominant non-syndromic intellectual disability caused by mutation in hivep2; hivep2 (human immunodeficiency virus type i enhancer binding protein 2) related intellectual disability; hivep2 autosomal dominant non-syndromic intellectual disability; hivep2-related intellectual disability; human immunodeficiency virus type i enhancer binding protein 2 related intellectual disability
Patient organizations
- Simons SearchlightIntellectual disability, autosomal dominant 43 · United States
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