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GTR Home > Conditions/Phenotypes > Lethal congenital contracture syndrome 3

Summary

Lethal congenital contracture syndrome-3 (LCCS3) is a severe autosomal recessive form of arthrogryposis characterized by multiple joint contractures with muscle wasting and atrophy (Narkis et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of LCCS, see LCCS1 (253310). [from OMIM]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: LCCS3, PIP5K-GAMMA, PIP5K1-gamma, PIP5Kgamma, PIP5K1C
    Summary: phosphatidylinositol-4-phosphate 5-kinase type 1 gamma

Clinical features

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