has material basis in germline mutation in CHKB megaconial type congenital muscular dystrophy https://github.com/monarch-initiative/mondo/issues/4069 https://rarediseases.info.nih.gov/diseases/10317/muscular-dystrophy-congenital-megaconial-type https://www.malacards.org/card/muscular_dystrophy_congenital_megaconial_type MESH:C566527 Orphanet:280671 muscular dystrophy, congenital, megaconial type congenital muscular dystrophy with mitochondrial structural abnormalities megaconial congenital muscular dystrophy congenital megaconial myopathy MONDO:0011246 DOID:0110632 megaconial congénital muscular dystrophy MEDGEN:355943 OMIM:602541 MDCMC megaconial type congenital muscular dystrophy congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect UMLS:C1865233 GARD:0010317 disorder of phospholipids, sphingolipids and fatty acids biosynthesis congenital muscular dystrophy