intellectual disability, X-linked 58
Findings
No curated finding names intellectual disability, X-linked 58 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene.
Definition from the Mondo Disease Ontology (MONDO:0010266), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
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.
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Dental malocclusionHPOHP:0000689
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 6 of 6 reported patients
- Long faceHPOHP:0000276
- 1 of 1 reported patient
- MyopiaHPOHP:0000545
- 1 of 1 reported patient
- Narrow faceHPOHP:0000275
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
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.
- TSPAN7HGNC:11854
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2020
- Moderate · PanelApp Australia · X-linked · 2025
Where it sits
Other names
5 names
Resolves to: intellectual disability, X-linked 58
- Also called
- intellectual developmental disorder, X-linked 58, X-linked recessiveintellectual disability, X-linked type 58mental retardation, X-linked type 58non-syndromic X-linked intellectual disability caused by mutation in TSPAN7TSPAN7 non-syndromic X-linked intellectual disability