intellectual disability, autosomal recessive 7
Findings
No curated finding names intellectual disability, autosomal recessive 7 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 TUSC3 gene.
Definition from the Mondo Disease Ontology (MONDO:0012615), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
4 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.
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 0 of 7 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.
- TUSC3HGNC:30242
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: intellectual disability, autosomal recessive 7
- Also called
- autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3intellectual disability, autosomal recessive type 7mental retardation, autosomal recessive type 7TUSC3 autosomal recessive non-syndromic intellectual disability