Genopathy
Gene-Disorder Association · Article
Gene
DELXQ21
Choroideremia, Deafness, And Mental Retardation
Disorder
Chromosome Xq21 Deletion Syndrome
First reported 1979
Key publication · disorder A teen-ager with 46,X,del(X)(q21).Southern medical journal · 1979
Manually curated
Association Review

In brief

The association between DELXQ21 (Choroideremia, Deafness, And Mental Retardation) and Chromosome Xq21 Deletion Syndrome is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 31
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 Xq21 Deletion Syndrome

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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04
Phenotype

Clinical features

13 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

2 references

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

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