intellectual disability, autosomal dominant 43
Findings
No curated finding names intellectual disability, autosomal dominant 43 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 HIVEP2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014858), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Fetal onset
HPO, annotations 2026-09-02
Features
115 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
- Asymmetric crying faceHPOHP:0011333
- 1 of 1 reported patient
- Breath-holding spellHPOHP:6000950
- 1 of 1 reported patient
- Broad footHPOHP:0001769
- 1 of 1 reported patient
- Compensatory head postureHPOHP:0031705
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 9 of 9 reported patients
- Delayed speech and language developmentHPOHP:0000750
Show the remaining 103
- Global developmental delayHPOHP:0001263
- 9 of 9 reported patients
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Medial flaring of the eyebrowHPOHP:0010747
- 1 of 1 reported patient
- MicroretrognathiaHPOHP:0000308
- 1 of 1 reported patient
- Moderately short statureHPOHP:0008848
- 1 of 1 reported patient
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.
- HIVEP2HGNC:4921
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
7 names
Resolves to: intellectual disability, autosomal dominant 43
- Also called
- autosomal dominant intellectual disability 43autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2HIVEP2 autosomal dominant non-syndromic intellectual disabilityintellectual disability, autosomal dominant type 43mental retardation, autosomal dominant 43mental retardation, autosomal dominant type 43MRD43