has material basis in germline mutation in MEGF10 MEGF10-related myopathy https://github.com/monarch-initiative/mondo/issues/1112 https://www.malacards.org/card/congenital_myopathy_10a_severe_variant early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Orphanet:439212 DOID:0111333 A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy. early-onset myopathy, areflexia, respiratory distress and dysphagia myopathy, areflexia, respiratory distress, and dysphagia, early-onset OMIM:614399 MEGF10 myopathy MEDGEN:482309 MEGF10-related myopathy UMLS:C3280679 EMARDD GARD:0012199 congenital myopathy 10A, severe variant MONDO:0013731 congenital myopathy