Disease #03224

Official abbreviation EDMD-4
Name dystrophy, muscular, Emery-Dreifuss, type 4, autosomal dominant (EDMD-4)
OMIM ID 612998
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene SYNE1
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00079580 - PubMed: Zhang 2007 Fam1 M - (United Kingdom (Great Britain)) - - 0 - - EDMD-4 - SYNE1 SYNE1 1 1 Johan den Dunnen
00079582 - PubMed: Zhang 2007 Fam3 M - (United Kingdom (Great Britain)) - - 0 - - EDMD-4 almost asymptomatic; CPK raised SYNE1 SYNE1 1 1 Johan den Dunnen
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