GTR Home > Conditions/Phenotypes > Lipodystrophy, congenital generalized, type 4


Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (608594) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009). For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594). [from OMIM]

Available tests

31 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: CAVIN, CGL4, FKSG13, PTRF, cavin-1, CAVIN1
    Summary: caveolae associated protein 1

Clinical features


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