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GTR Home > Conditions/Phenotypes > Myofibromatosis, infantile, 2

Myofibromatosis, infantile, 2

Summary

Infantile myofibromatosis is a disorder of mesenchymal proliferation characterized by the development of benign tumors in the skin, muscle, bone, and viscera. Soft tissue lesions may regress spontaneously. Visceral lesions are associated with high morbidity and mortality (summary by Martignetti et al., 2013). For a discussion of genetic heterogeneity of infantile myofibromatosis, see IMF1 (228550). [from OMIM]

Available tests

29 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CADASIL, CADASIL1, CASIL, IMF2, LMNS, NOTCH3
    Summary: notch receptor 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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