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intellectual disability, X-linked 72 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, X-linked 72

MONDO:0010289

Also known as:intellectual developmental disorder, X-linked 72, X-linked recessiveintellectual disability, X-linked type 72mental retardation, X-linked type 72

Overview

GeneticsX-linked · RAB39B (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; and common findings: Short stature, Seizure, and Macrocephaly. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Seizure, Global developmental delay, Autistic behavior

Genetic Landscape

RAB39B function has not been fully characterized.

Intellectual disability, X-linked 72 is associated with mutations in the RAB39B gene on chromosome X.

Diagnosis

Genetic testing for RAB39B is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, X-linked 72 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 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 72.

16 publications have been identified in PubMed for intellectual disability, X-linked 72. Research spans Epidemiology / Natural History (25%), Case Report / Case Series (19%), and Clinical Trial Publication (13%).

Research Type	Count	% of Total
Disease patterns and progression	4	25%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300271

GARD

Genetic and Rare Diseases Info Center

GARD:22671

Questions for Your Care Team

→Should female family members consider carrier screening for RAB39B?
→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 72

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

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 72

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