Genopathy
Gene-Disorder Association · Article
Gene
FRAXE
Fragile Site, Folic Acid Type, Rare, Fra(X)(Q28) E
Disorder
Intellectual Developmental Disorder, X-Linked 109
First reported 1992
Supporting publications 2
Key publication · disorder Characterisation of a new rare fragile site easily confused with the fragile X.Human molecular genetics · 1992
Association Review

In brief

The association between FRAXE (Fragile Site, Folic Acid Type, Rare, Fra(X)(Q28) E) and Intellectual Developmental Disorder, X-Linked 109 is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 0
Symptoms 37
Compounds 0
Trials 0
Publications 2
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
FRAXE

The gene

1 source summary

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

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04
Intellectual Developmental Disorder, X-Linked 109

The disorder

12 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

25 clinical features

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

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06
Literature

Reading

2 publications

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

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07
Provenance

References & sources

9 references

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

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