Genopathy
Gene-Disorder Association · Article
Gene
SYNE4
Spectrin Repeat Containing Nuclear Envelope Family Member 4
Disorder
Leukoencephalopathy With Vanishing White Matter
First reported 1968
Key publication · disorder [Experiences with the CACH medium for the demonstration of trichomonas and yeasts in women with vaginitis].Mykosen · 1968
Manually curated
Association Review

In brief

The association between SYNE4 (Spectrin Repeat Containing Nuclear Envelope Family Member 4) and Leukoencephalopathy With Vanishing White Matter is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 62
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
SYNE4

The gene

1 source summary

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

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04
Leukoencephalopathy With Vanishing White Matter

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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05
Phenotype

Clinical features

55 clinical features

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

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06
Provenance

References & sources

6 references

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

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