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GTR Home > Conditions/Phenotypes > Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies

Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies

Synonyms
CONGENITAL MYOPATHY 17; MYOPATHY, CONGENITAL, DUE TO MYOD1 DEFICIENCY

Summary

Congenital myopathy-17 (CMYP17) is an autosomal recessive muscle disorder. Affected individuals present at birth with hypotonia and respiratory insufficiency associated with high diaphragmatic dome on imaging. Other features include poor overall growth, pectus excavatum, dysmorphic facies, and renal anomalies in some. The severity of the disorder is highly variable: some patients may have delayed motor development with mildly decreased endurance, whereas others have more severe hypotonia associated with distal arthrogryposis and lung hypoplasia, resulting in early death (summary by Watson et al., 2016 and Lopes et al., 2018). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (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: CMYP17, MYF3, MYOD, MYODRIF, PUM, bHLHc1, MYOD1
    Summary: myogenic differentiation 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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