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GTR Home > Conditions/Phenotypes > Lymphatic malformation 8

Summary

Lymphatic malformation-8 (LMPHM8) is an autosomal recessive disorder in which affected fetuses die in utero due to nonimmune hydrops fetalis (NIHF). The fetus and placenta are edematous with interstitial accumulation of fluid and abnormally shaped vessels. The disorder results from impaired lymphangiogenesis. Carrier females have reduced fertility and recurrent miscarriages likely due to NIHF (summary by Mackie et al., 2018). For a discussion of genetic heterogeneity of lymphatic malformation, see LMPHM1 (153100). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CGRPR, CRLR, LMPHM8, CALCRL
    Summary: calcitonin receptor like receptor

Clinical features

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