Genopathy
Gene-Disorder Association · Article
Gene
LHFPL3
LHFPL Tetraspan Subfamily Member 3
Disorder
O'Donnell-Luria-Rodan Syndrome
First reported 2019
Key publication · disorder Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.American journal of human genetics · 2019
Association Review

In brief

The association between LHFPL3 (LHFPL Tetraspan Subfamily Member 3) and O'Donnell-Luria-Rodan Syndrome is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 0
Symptoms 51
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
LHFPL3

The gene

1 source summary

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

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04
O'Donnell-Luria-Rodan 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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05
Phenotype

Clinical features

27 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

4 references

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

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