Genopathy
Gene-Disorder Association · Article
Gene
HEPHL1
Hephaestin Like 1
Disorder
Abnormal Hair, Joint Laxity, And Developmental Delay
First reported 1992
Supporting publications 1
Key publication · disorder Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.Journal of medical genetics · 1992
Manually curated
Association Review

In brief

The association between HEPHL1 (Hephaestin Like 1) and Abnormal Hair, Joint Laxity, And Developmental Delay is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 8
Symptoms 59
Compounds 0
Trials 0
Publications 1
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

4 sources

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

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03
HEPHL1

The gene

1 source summary

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

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04
Abnormal Hair, Joint Laxity, And Developmental Delay

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

38 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

8 clinical variants

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

1 publication

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

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09
Provenance

References & sources

9 references

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

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