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GTR Home > Conditions/Phenotypes > Arthrogryposis, distal, type 1C

Arthrogryposis, distal, type 1C

Summary

Distal arthrogryposis type 1C (DA1C) is characterized by multiple congenital contractures, scoliosis, and short stature. Contractures involving the proximal joints appear to be more common in MYLPF-associated DA than in other forms of DA, and segmental amyoplasia has been observed (Chong et al., 2020). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DA1C, HUMMLC2B, MLC2B, MRLC2, MYLPF, MYL11
    Summary: myosin light chain 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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