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intellectual disability, X-linked 50 (MRX50) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, X-linked 50

MONDO:0010251

Also known as:MRX50intellectual developmental disorder, X-linked 50mental retardation, X-linked 50

Overview

GeneticsX-linked · SYN1 (chr X)

Clinical Presentation

Features include: Mild intellectual disability.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Mild intellectual disability

Explore clinical features

Genetic Landscape

SYN1 function has not been fully characterized.

Intellectual disability, X-linked 50 is associated with mutations in the SYN1 gene on chromosome X.

Diagnosis

Genetic testing for SYN1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, X-linked 50 has been reported in the published literature.

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 50.

69 publications have been identified in PubMed for intellectual disability, X-linked 50. Kisho has analyzed 52 by research type. Research spans Basic Science / Preclinical (25%), Epidemiology / Natural History (21%), and Diagnostic / Biomarker (19%).

Research Type	Count	% of Total
Laboratory research	13	25%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300115

GARD

Genetic and Rare Diseases Info Center

GARD:22668

Questions for Your Care Team

→Should female family members consider carrier screening for SYN1?
→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 50

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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