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Emery-Dreifuss muscular dystrophy 4, autosomal dominant | RareConnect | RareConnect.io

/autosomal dominant Emery-Dreifuss muscular dystrophy

/Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Rare Disease

MONDO:0013071

Also Known As

Emery-Dreifuss muscular dystrophy 4, autosomal dominantSYNE1 autosomal dominant Emery-Dreifuss muscular dystrophyautosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1EDMD4EMERY-Dreifuss muscular dystrophy 4, autosomal dominantEmery-Dreifuss muscular dystrophy 4 with variable features

Definition

Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:612998 ↗

GARD

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