Genopathy
Gene-Disorder Association · Article
Gene
EIF4A3
Eukaryotic Translation Initiation Factor 4A3
Disorder
Robin Sequence With Cleft Mandible And Limb Anomalies
First reported 1996
Supporting publications 9
Key publication · gene–disorder Laryngeal malformations in the Richieri-Costa and Pereira form of acrofacial dysostosis.American journal of medical genetics · 1996
Key publication · disorder The retrocuspid papilla. A clinical survey.Oral surgery, oral medicine, and oral pathology · 1976
Manually curated
Association Review

In brief

The association between EIF4A3 (Eukaryotic Translation Initiation Factor 4A3) and Robin Sequence With Cleft Mandible And Limb Anomalies is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 1
Symptoms 92
Compounds 0
Trials 0
Publications 9
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

5 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
EIF4A3

The gene

1 source summary

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

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04
Robin Sequence With Cleft Mandible And Limb Anomalies

The disorder

11 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

53 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

1 clinical variant

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

9 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

16 references

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

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