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syndromic X-linked intellectual disability Shrimpton type (MRXS9) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

syndromic X-linked intellectual disability Shrimpton type

MONDO:0010409

Also known as:MRXS9intellectual disability, X-linked, syndromic 9mental retardation, X-linked, syndromic 9

Overview

X-linked intellectual disability, Shrimpton type is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome.

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 very common findings: Microcephaly, High forehead, Strabismus, and Short stature and others. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Intellectual disability, Severe intellectual disability

Diagnosis

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

Prognosis

Phenotype severity distribution: 5 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 Shrimpton type.

94 publications have been identified in PubMed for syndromic X-linked intellectual disability Shrimpton type. Research spans Epidemiology / Natural History (28%), Basic Science / Preclinical (22%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Disease patterns and progression	26	28%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300709

Orphanet

European rare disease database

Orphanet:85324

GARD

Genetic and Rare Diseases Info Center

GARD:16751

Questions for Your Care Team

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Kisho

syndromic X-linked intellectual disability Shrimpton type

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

syndromic X-linked intellectual disability Shrimpton type

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications