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intellectual disability, X-linked 45 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, X-linked 45

MONDO:0010344

Also known as:intellectual disability, X-linked type 45mental retardation, X-linked 45mental retardation, X-linked type 45

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: Short stature, Prominent nasal bridge, High palate, and Macrotia and 2 more.

Organ System	Phenotype Count	Example Features
Growth and development	1	Short stature
Head and neck

Diagnosis

Biomarker and diagnostic research for intellectual disability, X-linked 45 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 45.

42 publications have been identified in PubMed for intellectual disability, X-linked 45. Research spans Review / Meta-Analysis (24%), Basic Science / Preclinical (24%), and Case Report / Case Series (19%).

Research Type	Count	% of Total
Research summaries	10	24%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300498

GARD

Genetic and Rare Diseases Info Center

GARD:22679

Questions for Your Care Team

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Kisho

intellectual disability, X-linked 45

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 45

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