autosomal dominant Emery-Dreifuss muscular dystrophy 5 (DOID:0070250)
Alliance: disease page
Synonyms: EDMD5; Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Alt IDs: OMIM:612999
Definition: An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2.