intellectual disability, autosomal dominant 2
MONDO:0013581Mondo
Findings
No curated finding names intellectual disability, autosomal dominant 2 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 DOCK8 gene.
Definition from the Mondo Disease Ontology (MONDO:0013581), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood 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.
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Absent speechHPOHP:0001344
- 1 of 2 reported patients
- CholesteatomaHPOHP:0009797
- 1 of 2 reported patients
- Deeply set eyeHPOHP:0000490
- 1 of 2 reported patients
- Midface retrusionHPOHP:0011800
Where it sits
Other names
6 names
Resolves to: intellectual disability, autosomal dominant 2
- Also called
- autosomal dominant intellectual disability 2autosomal dominant non-syndromic intellectual disability caused by mutation in DOCK8DOCK8 autosomal dominant non-syndromic intellectual disabilityintellectual disability, autosomal dominant type 2mental retardation, autosomal dominant type 2MRD2