intellectual disability, autosomal dominant 41
Findings
No curated finding names intellectual disability, autosomal dominant 41 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014842), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
10 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.
- Autistic behaviorHPOHP:0000729
- 1 of 1 reported patient
- Downturned corners of mouthHPOHP:0002714
- 1 of 1 reported patient
- Epileptic spasmHPOHP:0011097
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- HypsarrhythmiaHPOHP:0002521
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
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.
- TBL1XR1HGNC:29529
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020
Where it sits
Other names
7 names
Resolves to: intellectual disability, autosomal dominant 41
- Also called
- autosomal dominant intellectual disability 41autosomal dominant non-syndromic intellectual disability caused by mutation in TBL1XR1intellectual disability, autosomal dominant type 41mental retardation, autosomal dominant 41mental retardation, autosomal dominant type 41MRD41TBL1XR1 autosomal dominant non-syndromic intellectual disability