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intellectual developmental disorder, X-linked 114 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, X-linked 114

MONDO:0975828

Overview

GeneticsX-linked · SRPK3 (chr X)

ResearchLimited published research (2 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: Shrinkage of the cerebellum (cerebellar atrophy), Agenesis of corpus callosum, Delayed speech and language development, and Global developmental delay; and very common findings: Motor delay and Lateral ventricle dilatation. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Borderline intellectual disability, Moderate intellectual disability, Mild intellectual disability

Genetic Landscape

SRPK3 function has not been fully characterized.

Intellectual developmental disorder, X-linked 114 is associated with mutations in the SRPK3 gene on chromosome X.

Diagnosis

Genetic testing for SRPK3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 2 very common features, 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 developmental disorder, X-linked 114.

2 publications have been identified in PubMed for intellectual developmental disorder, X-linked 114. Research spans Clinical Trial Publication (50%) and Gene Therapy / Novel Therapeutics (50%).

Recent Publications

Nelson MA (2026). [PMID: 39579284](https://pubmed.ncbi.nlm.nih.gov/39579284/). *J Autism Dev Disord*. [Clinical Trial Publication]
Guzman ML (2025). [PMID: 40081494](https://pubmed.ncbi.nlm.nih.gov/40081494/). *J Pharm Sci*. [Gene Therapy / Novel Therapeutics]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301134

Questions for Your Care Team

→Should female family members consider carrier screening for SRPK3?
→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 developmental disorder, X-linked 114

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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