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syndromic X-linked intellectual disability Raymond type (MRXSR) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

syndromic X-linked intellectual disability Raymond type

MONDO:0010427

Also known as:MRXSRintellectual disability, X-linked syndromic, Raymond typemental retardation, X-linked syndromic, Raymond type

Overview

A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1.

GeneticsX-linked · ZDHHC9 (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: Intellectual disability; and sometimes findings: Atypical behavior. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Atypical behavior, Intellectual disability

Genetic Landscape

ZDHHC9 function has not been fully characterized.

Syndromic X-linked intellectual disability Raymond type is caused by mutations in the ZDHHC9 gene on chromosome X.

Diagnosis

Genetic testing for ZDHHC9 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 Raymond type.

2 publications have been identified in PubMed for syndromic X-linked intellectual disability Raymond type. Research spans Basic Science / Preclinical (50%) and Epidemiology / Natural History (50%).

Recent Publications

Kayhan G (2026). [PMID: 41751633](https://pubmed.ncbi.nlm.nih.gov/41751633/). *Genes (Basel)*. [Epidemiology / Natural History]
Adachi N (2025). [PMID: 39800157](https://pubmed.ncbi.nlm.nih.gov/39800157/). *J Lipid Res*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 10:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300799

GARD

Genetic and Rare Diseases Info Center

GARD:15264

Questions for Your Care Team

→Should female family members consider carrier screening for ZDHHC9?
→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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syndromic X-linked intellectual disability Raymond type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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