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intellectual disability, X-linked 61 (MRX61) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, X-linked 61

MONDO:0010506

Also known as:MRX61RLIM non-syndromic X-linked intellectual disabilityTonne-Kalscheuer syndrome

Overview

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

GeneticsX-linked · RLIM (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: Intellectual disability, Broad forehead, and Delayed speech and language development; and common findings: Hypertelorism, Blue irides, Feeding difficulties, and Autistic behavior and others. 49 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Poor speech, Aggressive behavior, Intellectual disability

Genetic Landscape

RLIM function has not been fully characterized.

Intellectual disability, X-linked 61 is associated with mutations in the RLIM gene on chromosome X.

Diagnosis

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

Biomarker and diagnostic research for intellectual disability, X-linked 61 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 9 common 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 61.

25 publications have been identified in PubMed for intellectual disability, X-linked 61. Research spans Basic Science / Preclinical (50%), Epidemiology / Natural History (21%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Laboratory research	12	50%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:29 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300978

GARD

Genetic and Rare Diseases Info Center

GARD:22695

Questions for Your Care Team

→Should female family members consider carrier screening for RLIM?
→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 61

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 61

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