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intellectual disability, X-linked 103 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, X-linked 103

MONDO:0010508

Also known as:KLHL15 non-syndromic X-linked intellectual disabilityMRX103intellectual developmental disorder, X-linked 103, X-linked recessive

Overview

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene.

GeneticsX-linked · KLHL15 (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: Wide mouth, Lateral ventricle dilatation, Micropenis, and Absent speech and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Absent speech, Delayed speech and language development, 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.

KLHL15 encodes kelch like family member 15 (604 aa). Substrate-specific adapter for CUL3 E3 ubiquitin-protein ligase complex. Highest expression in Testis (22.2 TPM) and Cells EBV-transformed lymphocytes (10.1 TPM).

Intellectual disability, X-linked 103 is associated with mutations in the KLHL15 gene on chromosome X.

KLHL15 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for KLHL15 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, X-linked 103 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 14 always present 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 103.

13 publications have been identified in PubMed for intellectual disability, X-linked 103. Research spans Review / Meta-Analysis (23%), Case Report / Case Series (23%), and Other (15%).

Research Type	Count	% of Total
Research summaries	3	23%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300982

Questions for Your Care Team

→Should female family members consider carrier screening for KLHL15?
→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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intellectual disability, X-linked 103

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 103

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