has material basis in germline mutation in LMNA congenital muscular dystrophy due to LMNA mutation https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/12585/congenital-muscular-dystrophy-due-to-lmna-mutation https://www.malacards.org/card/muscular_dystrophy_congenital_lmna_related Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. MEDGEN:413043 DOID:0110640 MDCL MONDO:0013178 muscular dystrophy, congenital muscular dystrophy, congenital, LMNA-related LMNA congenital muscular dystrophy LMNA-related congenital muscular dystrophy UMLS:C2750785 NANDO:2200866 L-CMD Orphanet:157973 GARD:0012585 congenital muscular dystrophy caused by mutation in LMNA NCIT:C148369 OMIM:613205 MESH:C567708 muscular dystrophy Congenital, LMNA-related congenital muscular dystrophy