Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked

MONDO:0010388

Also known as:rolandic epilepsy, impaired intellectual development, and speech dyspraxiarolandic epilepsy, mental retardation, and speech dyspraxia, X-linkedRESDX

Overview

GeneticsAutosomal dominant · SRPX2 (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: Bilateral perisylvian polymicrogyria, Mild intellectual disability, Seizure, and Speech apraxia and 1 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Mild intellectual disability, Seizure, Speech apraxia

Explore clinical features

Genetic Landscape

SRPX2 function has not been fully characterized.

Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked is associated with mutations in the SRPX2 gene on chromosome X.

Diagnosis

Genetic testing for SRPX2 is available. Testing is considered confirmatory for diagnosis.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300643

GARD

Genetic and Rare Diseases Info Center

GARD:18282

Questions for Your Care Team

→Should I pursue genetic testing for SRPX2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team