Version: 8.0.0
Date: Tue Jan 28 2025
facioscapulohumeral muscular dystrophy 4
DOID:0060918
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

facioscapulohumeral muscular dystrophy 4

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.
Synonyms
  • facioscapulohumeral muscular dystrophy type 4
  • FSHD4
Cross References
Parent Terms
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None
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