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GTR Home > Conditions/Phenotypes > Lymphatic malformation 12

Lymphatic malformation 12

Synonyms
CENTRAL CONDUCTING LYMPHATIC ANOMALY

Summary

Lymphatic malformation-12 (LMPHM12) is characterized by abnormalities in the development and function of major truncal lymphatic vessels, causing nonimmune hydrops fetalis that results in stillbirth in some cases. Other affected individuals experience postnatal subcutaneous lymphedema and chylothorax, with pleural and pericardial effusions and ascites (Byrne et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HIC, LMPHM12, MDFIC1, MDFIC
    Summary: MyoD family inhibitor domain containing

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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