intellectual disability, autosomal dominant 11
Findings
No curated finding names intellectual disability, autosomal dominant 11 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 EPB41L1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013658), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
18 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.
- Deeply set eyeHPOHP:0000490
- 11 of 11 reported patients
- Global developmental delayHPOHP:0001263
- 11 of 11 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 1 of 1 reported patient
- Feeding difficulties in infancyHPOHP:0008872
- 10 of 11 reported patients
- High foreheadHPOHP:0000348
- 9 of 11 reported patients
- Midface retrusionHPOHP:0011800
- 8 of 11 reported patients
- Intrauterine growth retardationHPO
Show the remaining 6
- Short philtrumHPOHP:0000322
- 5 of 11 reported patients
- Hearing impairmentHPOHP:0000365
- 4 of 9 reported patients
- CamptodactylyHPOHP:0012385
- 4 of 11 reported patients
- HypertelorismHPOHP:0000316
- 4 of 11 reported patients
- BrachydactylyHPOHP:0001156
- 3 of 11 reported patients
- Adducted thumbHPOHP:0001181
- 2 of 11 reported patients
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.
- EPB41L1HGNC:3378
- Limited · G2P · Autosomal dominant · 2025
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
7 names
Resolves to: intellectual disability, autosomal dominant 11
- Also called
- autosomal dominant intellectual disability 11autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1EPB41L1 autosomal dominant non-syndromic intellectual disabilityintellectual developmental disorder, autosomal dominant 11intellectual disability, autosomal dominant type 11mental retardation, autosomal dominant type 11MRD11