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syndromic X-linked intellectual disability 7 (MRXS7) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

syndromic X-linked intellectual disability 7

MONDO:0010270

Also known as:MRXS7X-linked intellectual disability, Ahmad typeintellectual disability, X-linked syndromic 7

Overview

Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers.

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: Intellectual disability, Hypogonadism, Tapered finger, and Obesity and others; and common findings: Tooth malposition, Muscle weakness, Sparse body hair, and Incomprehensible speech and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Intellectual disability, Moderate intellectual disability, Incomprehensible speech

Diagnosis

Biomarker and diagnostic research for syndromic X-linked intellectual disability 7 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 very common features, 7 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 7.

130 publications have been identified in PubMed for syndromic X-linked intellectual disability 7. Research spans Basic Science / Preclinical (25%), Epidemiology / Natural History (21%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Laboratory research	31	25%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300218

Orphanet

European rare disease database

Orphanet:85274

GARD

Genetic and Rare Diseases Info Center

GARD:9156

Questions for Your Care Team

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syndromic X-linked intellectual disability 7

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 7

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