Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

intellectual developmental disorder, X-linked 112 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, X-linked 112

MONDO:0957496

Overview

GeneticsX-linked · ZMYM3 (chr X)

ResearchLimited published research (5 articles)

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: Dilatation of the renal pelvis, Moderate intellectual disability, Short stature, and Heat intolerance and others; and very common findings: Intellectual disability. 41 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Moderate intellectual disability, Pain, Intellectual disability

Genetic Landscape

ZMYM3 function has not been fully characterized.

Intellectual developmental disorder, X-linked 112 is associated with mutations in the ZMYM3 gene on chromosome X.

Diagnosis

Genetic testing for ZMYM3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual developmental disorder, X-linked 112 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 33 always present features, 1 very common feature, 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 112.

5 publications have been identified in PubMed for intellectual developmental disorder, X-linked 112. Research spans Epidemiology / Natural History (40%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).

Recent Publications

Lubbers K (2026). [PMID: 39395123](https://pubmed.ncbi.nlm.nih.gov/39395123/). *J Autism Dev Disord*. [Epidemiology / Natural History]
Hnoonual A (2026). [PMID: 41167304](https://pubmed.ncbi.nlm.nih.gov/41167304/). *J Mol Diagn*. [Diagnostic / Biomarker]
Gogate A (2024). [PMID: 39632905](https://pubmed.ncbi.nlm.nih.gov/39632905/). *NPJ Genom Med*. [Epidemiology / Natural History]
Lin DS (2024). [PMID: 39594621](https://pubmed.ncbi.nlm.nih.gov/39594621/). *Cells*. [Review / Meta-Analysis]
Liu Y (2024). [PMID: 38697112](https://pubmed.ncbi.nlm.nih.gov/38697112/). *Neuron*. [Basic Science / Preclinical]

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:301111

Questions for Your Care Team

→Should female family members consider carrier screening for ZMYM3?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

intellectual developmental disorder, X-linked 112

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features