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intellectual developmental disorder, X-linked 110 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, X-linked 110

MONDO:0859086

Overview

GeneticsX-linked · FGF13 (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: Severe intellectual disability; and common findings: Slowness of movement (bradykinesia), Absent speech, and Episodic vomiting.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Slowness of movement (bradykinesia), Absent speech, Severe intellectual disability

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FGF13 encodes fibroblast growth factor 13 (245 aa). Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules. Highest expression in Brain Frontal Cortex BA9 (9.7 TPM) and Brain Nucleus accumbens basal ganglia (8.9 TPM).

Intellectual developmental disorder, X-linked 110 is associated with mutations in the FGF13 gene on chromosome X.

FGF13 is classified as a druggable target (Growth Factor category) with score 5.2.

Diagnosis

Genetic testing for FGF13 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual developmental disorder, X-linked 110 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 developmental disorder, X-linked 110.

11 publications have been identified in PubMed for intellectual developmental disorder, X-linked 110. Research spans Epidemiology / Natural History (45%), Basic Science / Preclinical (18%), and Diagnostic / Biomarker (9%).

Research Type	Count	% of Total
Disease patterns and progression	5	45%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:15 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301095

Questions for Your Care Team

→Should female family members consider carrier screening for FGF13?
→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 110

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 110

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