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intellectual disability, X-linked 96 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual disability, X-linked 96

MONDO:0010429

Also known as:SYP non-syndromic X-linked intellectual disabilityintellectual developmental disorder, X-linked 96, X-linked recessiveintellectual disability, X-linked type 96

Overview

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene.

GeneticsX-linked · SYP (chr X)

Clinical Presentation

Features include always present findings: Intellectual disability; and sometimes findings: Seizure.

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

Explore clinical features

Genetic Landscape

SYP function has not been fully characterized.

Intellectual disability, X-linked 96 is associated with mutations in the SYP gene on chromosome X.

Diagnosis

Genetic testing for SYP 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 intellectual disability, X-linked 96.

15 publications have been identified in PubMed for intellectual disability, X-linked 96. Research spans Basic Science / Preclinical (40%), Clinical Trial Publication (27%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Laboratory research	6	40%

Data assembled from 5 of 12 sources · Last updated Nov 2, 2026, 5:43 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300802

GARD

Genetic and Rare Diseases Info Center

GARD:22685

Questions for Your Care Team

→Should female family members consider carrier screening for SYP?
→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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intellectual disability, X-linked 96

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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