intellectual disability, autosomal dominant 38
MONDO:0014617Mondo
Findings
No curated finding names intellectual disability, autosomal dominant 38 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 EEF1A2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014617), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
27 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.
- Absent speechHPOHP:0001344
- 2 of 2 reported patients
- Aggressive behaviorHPOHP:0000718
- 2 of 2 reported patients
- Cerebral atrophyHPOHP:0002059
- 2 of 2 reported patients
- Deeply set eyeHPOHP:0000490
- 2 of 2 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 2 of 2 reported patients
- Downturned corners of mouthHPOHP:0002714
- 2 of 2 reported patients
- EpicanthusHPOHP:0000286
Show the remaining 15
- Sleep disturbanceHPOHP:0002360
- 2 of 2 reported patients
- Tented upper lip vermilionHPOHP:0010804
- 2 of 2 reported patients
- AtaxiaHPOHP:0001251
- 1 of 2 reported patients
- BruxismHPOHP:0003763
- 1 of 2 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 2 reported patients
- Full cheeksHPOHP:0000293
- 1 of 2 reported patients
Where it sits
Other names
8 names
Resolves to: intellectual disability, autosomal dominant 38
- Also called
- autosomal dominant intellectual disability 38autosomal dominant non-syndromic intellectual disability caused by mutation in EEF1A2EEF1A2 autosomal dominant non-syndromic intellectual disabilityintellectual disability, autosomal dominant type 38mental retardation, autosomal dominant type 38MRD38PRELDSpsychomotor retardation, epilepsy, and language disability syndrome