intellectual disability, autosomal recessive 13
Findings
No curated finding names intellectual disability, autosomal recessive 13 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene.
Definition from the Mondo Disease Ontology (MONDO:0013173), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
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.
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Truncal obesityHPOHP:0001956
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 6 reported patients
- HyperactivityHPOHP:0000752
- 2 of 3 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 3 reported patients
- Short neckHPOHP:0000470
- 2 of 3 reported patients
- Short philtrumHPOHP:0000322
Show the remaining 6
- HypertelorismHPOHP:0000316
- 1 of 3 reported patients
- HypotelorismHPOHP:0000601
- 1 of 3 reported patients
- Inferior cerebellar vermis hypoplasiaHPOHP:0007068
- 1 of 3 reported patients
- Mild microcephalyHPOHP:0040196
- 1 of 3 reported patients
- Recurrent hand flappingHPOHP:0100023
- 1 of 3 reported patients
- Slender fingerHPOHP:0001238
- 1 of 3 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.
- TRAPPC9HGNC:30832
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
Other names
4 names
Resolves to: intellectual disability, autosomal recessive 13
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9intellectual disability, autosomal recessive type 13mental retardation, autosomal recessive type 13TRAPPC9 autosomal recessive non-syndromic intellectual disability