intellectual disability, autosomal dominant 42

Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in the GNB1 gene. It is characterized by global developmental delay, intellectual disability, hypotonia, structural brain abnormalities, and seizures. Other less common findings include dystonia, visual impairment, behavior problems, growth delay, craniofacial defects, and genitourinary abnormalities in males.

Also known as: GNB1-related disorder, GNB1-related neurodevelopmental disorder, MRD42, autosomal dominant intellectual disability 42, global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome, intellectual developmental disorder, autosomal dominant 42

Category: General

What is intellectual disability, autosomal dominant 42?

intellectual disability, autosomal dominant 42 is a recognized medical condition. This page explains what it is, symptoms that may accompany it, and the lab tests healthcare providers sometimes use to investigate it. It is educational information only and is not a diagnosis.

If you think you may have intellectual disability, autosomal dominant 42, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with intellectual disability, autosomal dominant 42

AnxietyAtonic seizureBilateral tonic-clonic seizureDysphagiaFailure to thriveFebrile convulsionFocal hemiclonic seizureFocal impaired awareness seizureFocal-onset seizureGeneralized non-motor (absence) seizureGeneralized tonic seizureLower limb muscle weakness

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.