has material basis in germline mutation in COL6A2 Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy 1B https://www.malacards.org/card/ullrich_congenital_muscular_dystrophy_1b OMIM:620727 UMLS:C5935582 MEDGEN:1859300 DOID:0060942 MONDO:0958235 GARD:0026982