has material basis in germline mutation in MYOD1 congenital myopathy myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies https://github.com/monarch-initiative/mondo/issues/4069 https://www.malacards.org/card/congenital_myopathy_17 OMIM:618975 Myopathy, Congenital, Due to Myod1 Deficiency MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES DOID:0081349 UMLS:C5436530 MONDO:0033548 MEDGEN:1764743 GARD:0025807 MYODRIF