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

intellectual disability, X-linked, syndromic, 35 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, X-linked, syndromic, 35

MONDO:0030908

Also known as:intellectual developmental disorder, X-linked, syndromic, 35, X-linked recessiveMRXS35mental retardation, X-linked, syndromic, 35

Overview

GeneticsX-linked · RPL10 (chr X)

OnsetANTENATAL, NEONATAL

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: Gait ataxia, Low muscle tone (hypotonia), Intellectual disability, and Spondyloepiphyseal dysplasia and others; and very common findings: Seizure, Delayed speech and language development, and Growth delay. 64 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Seizure, Gait ataxia, Ataxia

Genetic Landscape

RPL10 function has not been fully characterized.

Intellectual disability, X-linked, syndromic, 35 is associated with mutations in the RPL10 gene on chromosome X.

Diagnosis

Genetic testing for RPL10 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intellectual disability, X-linked, syndromic, 35 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present features, 3 very common features, 33 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 disability, X-linked, syndromic, 35.

39 publications have been identified in PubMed for intellectual disability, X-linked, syndromic, 35. Research spans Basic Science / Preclinical (31%), Review / Meta-Analysis (21%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Laboratory research	12	31%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300998

Questions for Your Care Team

→Should female family members consider carrier screening for RPL10?
→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

Kisho

intellectual disability, X-linked, syndromic, 35

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, syndromic, 35

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