PVNH5 and Chromosome 5q14.3 Deletion Syndrome, Distal: Association Evidence

Gene-Disorder Association · Article

Gene

PVNH5

Periventricular Nodular Heterotopia 5

Disorder

Chromosome 5q14.3 Deletion Syndrome, Distal

First reported 1991

Key publication · disorder Fine mapping of probes in the adenomatous polyposis coli region of chromosome 5 by in situ hybridization.Genes, chromosomes & cancer · 1991

Manually curated

Association Review

In brief

The association between PVNH5 (Periventricular Nodular Heterotopia 5) and Chromosome 5q14.3 Deletion Syndrome, Distal 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

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 5q14.3 Deletion Syndrome, Distal

The disorder

5 database identifiers

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

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Provenance

References & sources

1 reference

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

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