Genopathy
Gene-Disorder Association · Article
Gene
DST
Dystonin
Disorder
Lethal Congenital Contracture Syndrome 12
First reported 2012
Key publication · disorder Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.Annals of neurology · 2012
Manually curated
Association Review

In brief

The association between DST (Dystonin) and Lethal Congenital Contracture Syndrome 12 is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a known molecular basis.

Sources 1
Clinical variants 0
Symptoms 38
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
DST

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Lethal Congenital Contracture Syndrome 12

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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05
Phenotype

Clinical features

1 clinical feature

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

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06
Provenance

References & sources

2 references

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

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