intellectual disability, autosomal dominant 42
Findings
No curated finding names intellectual disability, autosomal dominant 42 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0014855), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
83 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- 13 of 13 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- 11 of 13 reported patients
- Generalized hypotoniaHPOHP:0001290
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- 10 of 13 reported patients
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GNB1HGNC:4396
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · Illumina · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
9 names
Resolves to: intellectual disability, autosomal dominant 42
- Also called
- autosomal dominant intellectual disability 42global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeGNB1-related disorderGNB1-related neurodevelopmental disorderintellectual developmental disorder, autosomal dominant 42intellectual disability, autosomal dominant type 42mental retardation, autosomal dominant 42mental retardation, autosomal dominant type 42MRD42