intellectual disability, autosomal dominant 33
Findings
No curated finding names intellectual disability, autosomal dominant 33 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 DPP6 gene.
Definition from the Mondo Disease Ontology (MONDO:0014580), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
9 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.
- Decreased body weightHPOHP:0004325
- 6 of 6 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 6 of 6 reported patients · Congenital onset
- Short statureHPOHP:0004322
- 5 of 6 reported patients
- AmblyopiaHPOHP:0000646
- 1 of 6 reported patients
- Chorioretinal atrophyHPOHP:0000533
- 1 of 6 reported patients
- Delayed skeletal maturationHPO
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.
- DPP6HGNC:3010
- Limited · Ambry Genetics · Autosomal dominant · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
6 names
Resolves to: intellectual disability, autosomal dominant 33
- Also called
- autosomal dominant intellectual disability 33autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6DPP6 autosomal dominant non-syndromic intellectual disabilityintellectual disability, autosomal dominant type 33mental retardation, autosomal dominant type 33MRD33