hereditary disease muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers https://www.malacards.org/card/muscular_dystrophy_congenital_with_severe_central_nervous_system_atrophy_and_absence_of_large_myelinated_fibers MONDO:0011009 MEDGEN:331338 muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers UMLS:C1832665 MESH:C563378 OMIM:601170