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intellectual disability, X-linked 100 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, X-linked 100

MONDO:0010488

Also known as:KIF4A non-syndromic X-linked intellectual disabilityintellectual developmental disorder, X-linked 100, X-linked recessiveintellectual disability, X-linked type 100

Overview

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene.

GeneticsX-linked · KIF4A (chr X)

OnsetJUVENILE

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: Delayed speech and language development and Intellectual disability; and very common findings: Bilateral tonic-clonic seizure and Generalized non-motor (absence) seizure. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Bilateral tonic-clonic seizure, Delayed speech and language development, Generalized non-motor (absence) seizure

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.

KIF4A encodes kinesin family member 4A (1,232 aa). Iron-sulfur (Fe-S) cluster binding motor protein that has a role in chromosome segregation during mitosis. Highest expression in Cells EBV-transformed lymphocytes (24.6 TPM) and Cells Cultured fibroblasts (11.5 TPM).

Intellectual disability, X-linked 100 is associated with mutations in the KIF4A gene on chromosome X.

The KIF4A protein participates in Kinesins bind microtubules pathway.

KIF4A is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KIF4A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, X-linked 100 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 2 very 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 100.

53 publications have been identified in PubMed for intellectual disability, X-linked 100. Research spans Basic Science / Preclinical (23%), Diagnostic / Biomarker (19%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Laboratory research	12	23%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300923

Questions for Your Care Team

→Should female family members consider carrier screening for KIF4A?
→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 100

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 disability, X-linked 100

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