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intellectual disability, X-linked 105 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, X-linked 105

MONDO:0010510

Also known as:MRX105USP27X non-syndromic X-linked intellectual disabilityintellectual developmental disorder, X-linked 105, X-linked recessive

Overview

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene.

GeneticsX-linked · USP27X (chr X)

Clinical Presentation

Features include: Atypical behavior, Absent speech, and Intellectual disability.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Atypical behavior, Absent speech, Intellectual disability

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Genetic Landscape

USP27X function has not been fully characterized.

Intellectual disability, X-linked 105 is associated with mutations in the USP27X gene on chromosome X.

Diagnosis

Genetic testing for USP27X is available. Testing is considered confirmatory for diagnosis.

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 105.

10 publications have been identified in PubMed for intellectual disability, X-linked 105. Research spans Epidemiology / Natural History (40%), Case Report / Case Series (30%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Disease patterns and progression	4	40%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300984

GARD

Genetic and Rare Diseases Info Center

GARD:22697

Questions for Your Care Team

→Should female family members consider carrier screening for USP27X?
→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 105

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

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