C16DUPQ12 and Chromosome 16q12 Duplication Syndrome: Association Evidence

Gene-Disorder Association · Article

Gene

Chromosome 16q12 Duplication Syndrome

Disorder

First reported 2000

Key publication · disorder Anisomastia associated with interstitial duplication of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital anomalies: molecular mapping of a new syndrome by fluorescent in situ hybridization and microsatellites to 16q13 (D16S419-D16S503).The Journal of clinical endocrinology and metabolism · 2000

Manually curated

Association Review

In brief

The association between C16DUPQ12 (Chromosome 16q12 Duplication Syndrome) and Chromosome 16q12 Duplication Syndrome is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1

Clinical variants 0

Symptoms 25

Compounds 0

Trials 0

Publications 0

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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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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Chromosome 16q12 Duplication Syndrome

The disorder

3 database identifiers

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

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Phenotype

Clinical features

12 clinical features

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

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Provenance

References & sources

2 references

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

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