Genopathy
Gene-Disorder Association · Article
Gene
SMCHD1
Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1
Disorder
Congenital Muscular Dystrophy
First reported 1956
Key publication · disorder Familial congenital muscular dystrophy with gonadal dysgenesis.The Journal of clinical endocrinology and metabolism · 1956
Manually curated
Association Review

In brief

The association between SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1) and Congenital Muscular Dystrophy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
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
SMCHD1

The gene

1 source summary

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

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04
Congenital Muscular Dystrophy

The disorder

7 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Provenance

References & sources

3 references

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

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