Term Name: | autosomal dominant Emery-Dreifuss muscular dystrophy 4 |
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Synonyms: | EDMD4, Emery-Dreifuss muscular dystrophy 4 with variable features, Emery-Dreifuss muscular dystrophy 4, autosomal dominant |
Definition: | An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. |
Ontology: | Human Disease [DOID:0070249] ( DOID:0070249 ) |