MDC1B and Muscular Dystrophy, Congenital, 1b: Association Evidence

Gene-Disorder Association · Article

Gene

MDC1B

Muscular Dystrophy, Congenital, 1B

Disorder

First reported 1998

Key publication · disorder An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 1998

Manually curated

Association Review

In brief

The association between MDC1B (Muscular Dystrophy, Congenital, 1B) and Muscular Dystrophy, Congenital, 1b is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1

Clinical variants 0

Symptoms 27

Compounds 0

Trials 0

Publications 0

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

Provenance

Evidence and sources

1 source

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

Request access

Muscular Dystrophy, Congenital, 1b

The disorder

10 database identifiers

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

Request access

Phenotype

Clinical features

14 clinical features

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

Request access

Provenance

References & sources

4 references

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

Request access