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NEK9-related lethal skeletal dysplasia

Synonyms
Lethal congenital contracture syndrome 10
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Lethal congenital contracture syndrome-10 (LCCS10) is an autosomal recessive disorder characterized by fetal akinesia, multiple contractures, shortening of upper and lower limbs, and narrow chest and thorax. Death occurs in utero or soon after birth (Casey et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (253310). [from OMIM]

Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: APUG, LCCS10, NC, NERCC, NERCC1, NEK9
    Summary: NIMA related kinase 9

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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