has material basis in germline mutation in CRYAB fatal infantile hypertonic myofibrillar myopathy https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6752 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/fatal_infantile_hypertonic_myofibrillar_myopathy https://www.malacards.org/card/myopathy_myofibrillar_fatal_infantile_hypertonic_alpha_b_crystallin_related Orphanet:280553 alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy myofibrillar myopathy type 7 DOID:0080309 fatal infantile hypertonic myofibrillar myopathy MFM, fatal infantile hypertonic, alpha-B crystallin-related MEDGEN:1684001 MONDO:0013472 UMLS:C5190691 GARD:0017296 myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related OMIM:613869 myofibrillar myopathy