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GTR Home > Conditions/Phenotypes > Facioscapulohumeral muscular dystrophy 3, digenic

Facioscapulohumeral muscular dystrophy 3, digenic

Summary

Facioscapulohumeral muscular dystrophy-3 (FSHD3) is a digenic muscle disorder characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs. Muscle involvement is usually asymmetric, and other muscle groups may become involved with progression of the disease (summary by Hamanaka et al., 2020). For a discussion of genetic heterogeneity of FSHD, see FSHD1 (158900). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C1orf103, FSHD3, HBiX1, RIF1, LRIF1
    Summary: ligand dependent nuclear receptor interacting factor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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