Genopathy
Gene-Disorder Association · Article
Gene
DUPXQ28
Chromosome Xq28 Duplication Syndrome
Disorder
Chromosome Xq28 Duplication Syndrome
First reported 2006
Key publication · disorder Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.Pediatrics · 2006
Manually curated
Association Review

In brief

The association between DUPXQ28 (Chromosome Xq28 Duplication Syndrome) and Chromosome Xq28 Duplication Syndrome is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
Chromosome Xq28 Duplication Syndrome

The disorder

4 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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04
Provenance

References & sources

1 reference

Every source and publication cited across this dossier, as one numbered reference list.

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