Genopathy
Gene-Disorder Association · Article
Gene
DEL17Q11.2
Chromosome 17q11.2 Deletion Syndrome
Disorder
Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb
First reported 1994
Key publication · disorder Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.American journal of human genetics · 1994
Manually curated
Association Review

In brief

The association between DEL17Q11.2 (Chromosome 17q11.2 Deletion Syndrome) and Chromosome 17q11.2 Deletion Syndrome, 1.4-Mb is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 92
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 17q11.2 Deletion Syndrome, 1.4-Mb

The disorder

9 database identifiers

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

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04
Phenotype

Clinical features

61 clinical features

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

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05
Provenance

References & sources

4 references

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

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