Facioscapulohumeral muscular dystrophy 4, digenic

Summary

Facioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscle disorder characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles. With disease progression, other muscles also may become affected. There is significant clinical variability and incomplete penetrance (summary by van den Boogaard et al., 2016). For a discussion of genetic heterogeneity of FSHD, see FSHD1 (158900). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

DNMT3B
58 tests
Also known as: FSHD4, ICF, ICF1, M.HsaIIIB, DNMT3B
Summary: DNA methyltransferase 3 beta

Imported from Human Phenotype Ontology (HPO)

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Abnormality of limbs
- Upper limb muscle weakness
  Upper limb muscle weakness
  - MedGen UID: 305607
  - Concept ID: C1698196
  - Finding: Finding
  Abnormality of limbs
  See: Feature record | Search on this feature
Abnormality of the musculoskeletal system
- Weakness of facial musculature
  Weakness of facial musculature
  - MedGen UID: 98103
  - Concept ID: C0427055
  - Finding: Disease or Syndrome
  Abnormality of the musculoskeletal system
  See: Feature record | Search on this feature

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Clinical resources

Molecular resources

Consumer resources

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