facioscapulohumeral muscular dystrophy 4 (DOID:0060918)
Alliance: disease page
Synonyms: facioscapulohumeral muscular dystrophy type 4; FSHD4
Alt IDs: OMIM:619478
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.