has material basis in germline mutation in DYNC1H1 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/spinal_muscular_atrophy_lower_extremity_predominant_1_autosomal_dominant https://www.malacards.org/card/spinal_muscular_atrophy_with_lower_extremity_predominant_1 spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant MESH:C563560 spinal muscular atrophy, lower extremity-predominant 1, AD MONDO:0008026 Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures OMIM:158600 SMALED1 GARD:0013519 UMLS:C5780022 Orphanet:209341 MEDGEN:1830501 DOID:0070351 autosomal dominant childhood-onset proximal spinal muscular atrophy