benign Samaritan congenital myopathy https://www.malacards.org/card/benign_samaritan_congenital_myopathy MEDGEN:1666762 UMLS:C4749502 Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood. MONDO:0017936 GARD:0021445 Orphanet:324581 congenital myopathy