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MRXSC

Chr XXLR

Cabezas X-linked mental retardation syndrome

The MRXSC protein function is not well characterized based on the provided information. Mutations cause X-linked syndromic intellectual developmental disorder of the Cabezas type, which presents as a syndromic form of intellectual disability with additional clinical features. This condition follows X-linked recessive inheritance, primarily affecting males.

OMIMResearchSummary from OMIM
XLR1 OMIM phenotype
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MRXSC?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MRXSC · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found