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GTR Home > Conditions/Phenotypes > Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect

Synonyms
Arthrogryposis multiplex congenita, neurogenic, with myelin defect

Summary

AMC1 is an autosomal recessive severe neurologic disorder with onset in utero. Most affected individuals die in utero or are subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect (summary by Xue et al., 2017). <Genetic Heterogeneity of Arthrogryposis Multiplex Congenita Also see AMC2 (208100), caused by mutation in the ERGIC1 gene (617946); AMC3 (618484), caused by mutation in the SYNE1 gene (608441); AMC4 (618776), caused by mutation in the SCYL2 gene (616365); AMC5 (618947), caused by mutation in the TOR1A gene (605204), and AMC6 (619334), caused by mutation in the NEB gene (161650) [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AMC1, AMCNMY, LGIL3, LGI4
    Summary: leucine rich repeat LGI family member 4

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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