Genopathy
Gene-Disorder Association · Article
Gene
SMCHD1
Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1
Disorder
Muscular Dystrophy, Duchenne Type
First reported 1950
Key publication · disorder Testosterone in progressive pseudohypertrophic muscular dystrophy.The Journal of pediatrics · 1950
Manually curated
Association Review

In brief

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

Sources 1
Clinical variants 0
Symptoms 50
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.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
SMCHD1

The gene

1 source summary

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

Request access
04
Muscular Dystrophy, Duchenne Type

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

39 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Provenance

References & sources

7 references

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

Request access