Genopathy
Gene-Disorder Association · Article
Gene
DEL19Q13.11
Chromosome 19q13.11 Deletion Syndrome
Disorder
Chromosome 19q13.11 Deletion Syndrome, Distal
First reported 1998
Key publication · disorder Constitutional del(19)(q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems.American journal of medical genetics · 1998
Manually curated
Association Review

In brief

The association between DEL19Q13.11 (Chromosome 19q13.11 Deletion Syndrome) and Chromosome 19q13.11 Deletion Syndrome, Distal 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 19q13.11 Deletion Syndrome, Distal

The disorder

3 database identifiers

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

Request access
04
Phenotype

Clinical features

48 clinical features

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

Request access
05
Provenance

References & sources

2 references

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

Request access