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intellectual disability, X-linked 46 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, X-linked 46

MONDO:0010326

Also known as:intellectual disability, X-linked type 46mental retardation, X-linked 46, X-linked recessivemental retardation, X-linked type 46

Overview

GeneticsX-linked

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 sometimes findings: Inner ear hearing loss (sensorineural hearing impairment). 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	1	Inner ear hearing loss (sensorineural hearing impairment)
Brain and nerves

Diagnosis

Biomarker and diagnostic research for intellectual disability, X-linked 46 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 46.

37 publications have been identified in PubMed for intellectual disability, X-linked 46. Research spans Case Report / Case Series (24%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Patient case studies	9	24%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 5:20 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300436

GARD

Genetic and Rare Diseases Info Center

GARD:22677

Questions for Your Care Team

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Kisho

intellectual disability, X-linked 46

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

intellectual disability, X-linked 46

Overview

Clinical Presentation

Diagnosis

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