U.S. flag

An official website of the United States government

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 (CMYO17) 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 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: CMYO17, CMYP17, MYF3, MYOD, MYODRIF, PUM, bHLHc1, MYOD1
    Summary: myogenic differentiation 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.