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intellectual disability, X-linked 107 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, X-linked 107

MONDO:0049222

Also known as:intellectual developmental disorder, X-linked 107MRX107mental retardation, X-linked 107

Overview

GeneticsX-linked · STEEP1 (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: Global developmental delay and Intellectual disability; and very common findings: Long face. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Seizure, Global developmental delay, Aggressive behavior

Genetic Landscape

STEEP1 function has not been fully characterized.

Intellectual disability, X-linked 107 has been associated with mutations in the STEEP1 gene on chromosome X.

Diagnosis

Genetic testing for STEEP1 is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 8 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 107.

10 publications have been identified in PubMed for intellectual disability, X-linked 107. Research spans Epidemiology / Natural History (30%), Case Report / Case Series (20%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Disease patterns and progression	3	30%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301013

GARD

Genetic and Rare Diseases Info Center

GARD:22698

Questions for Your Care Team

→Should female family members consider carrier screening for STEEP1?
→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 disability, X-linked 107

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 107

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