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GTR Home > Conditions/Phenotypes > Myopathy, congenital, with respiratory insufficiency and bone fractures

Myopathy, congenital, with respiratory insufficiency and bone fractures

Summary

Congenital myopathy-9A (CMYO9A) is an autosomal recessive early-onset severe muscular disorder resulting in early death. Affected individuals present at birth with neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency. Laboratory investigations are consistent with a defect in early muscle development (summary by Estan et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMYO9A, CMYO9B, CMYP9A, CMYP9B, FXR1P, MYOPMIL, MYORIBF, FXR1
    Summary: FMR1 autosomal homolog 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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