Term Name: autosomal dominant Emery-Dreifuss muscular dystrophy 4
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 )

Relationships
is a type of: autosomal dominant disease Emery-Dreifuss muscular dystrophy