/myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies

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

Rare Disease

MONDO:0033548

Also Known As

MYODRIFMYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIESMyopathy, Congenital, Due to Myod1 Deficiency

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Associated Genes

MYOD1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:618975 ↗

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