Genopathy
Gene-Disorder Association · Article
Gene
DUP17P13.3
Chromosome 17p13.3 Duplication Syndrome
Disorder
Chromosome 17p13.3, Centromeric, Duplication Syndrome
First reported 2009
Key publication · disorder Increased LIS1 expression affects human and mouse brain development.Nature genetics · 2009
Manually curated
Association Review

In brief

The association between DUP17P13.3 (Chromosome 17p13.3 Duplication Syndrome) and Chromosome 17p13.3, Centromeric, Duplication Syndrome is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 83
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.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
Chromosome 17p13.3, Centromeric, Duplication Syndrome

The disorder

10 database identifiers

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

Request access
04
Phenotype

Clinical features

57 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
05
Provenance

References & sources

4 references

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

Request access