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intellectual developmental disorder, X-linked 108 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, X-linked 108

MONDO:0026723

Also known as:intellectual developmental disorder, X-linked 108, X-linked recessiveMRX108Mental Retardation, X-Linked 108

Overview

GeneticsX-linked · SLC9A7 (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: Moderate intellectual disability and Global developmental delay; and common findings: Low muscle tone (hypotonia), Proximal muscle weakness, Brisk reflexes, and Long face and others. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Moderate intellectual disability, Broad-based gait, Delayed speech and language development

Genetic Landscape

SLC9A7 function has not been fully characterized.

Intellectual developmental disorder, X-linked 108 is associated with mutations in the SLC9A7 gene on chromosome X.

Diagnosis

Genetic testing for SLC9A7 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 7 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 developmental disorder, X-linked 108.

10 publications have been identified in PubMed for intellectual developmental disorder, X-linked 108. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (20%), and Clinical Trial Publication (10%).

Research Type	Count	% of Total
Patient case studies	5	50%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301024

Questions for Your Care Team

→Should female family members consider carrier screening for SLC9A7?
→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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Kisho

intellectual developmental disorder, X-linked 108

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

intellectual developmental disorder, X-linked 108

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications