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intellectual developmental disorder, X-linked 113 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder, X-linked 113

MONDO:0958200

Overview

GeneticsX-linked · CSTF2 (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: Mild intellectual disability and Delayed speech and language development. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Mild intellectual disability, Delayed speech and language development

Explore clinical features

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.

CSTF2 encodes cleavage stimulation factor subunit 2 (577 aa). One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs. This subunit is directly involved in the binding to pre-mRNAs Highest expression in Cells EBV-transformed lymphocytes (35.5 TPM) and Esophagus Mucosa (27.4 TPM).

Intellectual developmental disorder, X-linked 113 is associated with mutations in the CSTF2 gene on chromosome X.

The CSTF2 protein participates in PABPN1-stimulated PAPOL synthesizes polyA tail at distal 3'UTR PAS pathway.

CSTF2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CSTF2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual developmental disorder, X-linked 113 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 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 developmental disorder, X-linked 113.

10 publications have been identified in PubMed for intellectual developmental disorder, X-linked 113. Research spans Basic Science / Preclinical (40%), Diagnostic / Biomarker (20%), and Other (10%).

Research Type	Count	% of Total
Laboratory research	4	40%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:23 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:301116

Questions for Your Care Team

→Should female family members consider carrier screening for CSTF2?
→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 113

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

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