Term Name: facioscapulohumeral muscular dystrophy 4
Synonyms: facioscapulohumeral muscular dystrophy type 4, FSHD4
Definition: A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.
Ontology: Human Disease [DOID:0060918]   ( DOID:0060918 )

Relationships
is a type of: digenic disease facioscapulohumeral muscular dystrophy