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intellectual disability, X-linked 58 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, X-linked 58

MONDO:0010266

Also known as:TSPAN7 non-syndromic X-linked intellectual disabilityintellectual developmental disorder, X-linked 58, X-linked recessiveintellectual disability, X-linked type 58

Overview

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the TSPAN7 gene.

GeneticsX-linked · TSPAN7 (chr X)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Narrow face, Small nail, Delayed speech and language development, and Long face and others.

Organ System	Phenotype Count	Example Features
Head and neck	2	Narrow face, Long face
Brain and nerves

Genetic Landscape

TSPAN7 function has not been fully characterized.

Intellectual disability, X-linked 58 is associated with mutations in the TSPAN7 gene on chromosome X.

Diagnosis

Genetic testing for TSPAN7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, X-linked 58 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for intellectual disability, X-linked 58.

21 publications have been identified in PubMed for intellectual disability, X-linked 58. Research spans Epidemiology / Natural History (29%), Basic Science / Preclinical (24%), and Clinical Trial Publication (19%).

Research Type	Count	% of Total
Disease patterns and progression	6	29%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300210

GARD

Genetic and Rare Diseases Info Center

GARD:22670

Questions for Your Care Team

→Should female family members consider carrier screening for TSPAN7?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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intellectual disability, X-linked 58

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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Recent Publications

intellectual disability, X-linked 58

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications