Term Name: | facioscapulohumeral muscular dystrophy 4 |
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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 ) |