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syndromic X-linked intellectual disability Chudley-Schwartz type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

syndromic X-linked intellectual disability Chudley-Schwartz type

MONDO:0010462

Also known as:MRXSCSX-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbanceX-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance

Overview

A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23.

GeneticsX-linked

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 sometimes findings: Shrinkage of the cerebellum (cerebellar atrophy) and Peripheral neuropathy. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Poor speech, Moderate intellectual disability, Seizure

Diagnosis

Biomarker and diagnostic research for syndromic X-linked intellectual disability Chudley-Schwartz type has been reported in the published literature.

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 syndromic X-linked intellectual disability Chudley-Schwartz type.

171 publications have been identified in PubMed for syndromic X-linked intellectual disability Chudley-Schwartz type. Research spans Basic Science / Preclinical (55%), Case Report / Case Series (18%), and Review / Meta-Analysis (11%).

Research Type	Count	% of Total
Laboratory research	88	55%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300861

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syndromic X-linked intellectual disability Chudley-Schwartz type

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

syndromic X-linked intellectual disability Chudley-Schwartz type

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications