facioscapulohumeral muscular dystrophy 3 (DOID:0060917)
Alliance: disease page
Synonyms: facioscapulohumeral muscular dystrophy type 3; FSHD3
Alt IDs: OMIM:619477
Definition: A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression.