spinal atrophy-ophthalmoplegia-pyramidal syndrome https://github.com/monarch-initiative/mondo/issues/6752 https://rarediseases.info.nih.gov/diseases/4942/spinal-atrophy-ophthalmoplegia-pyramidal-syndrome https://www.malacards.org/card/spinal_atrophy_ophthalmoplegia_pyramidal_syndrome_2 Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. MESH:C535625 UMLS:C2930956 Orphanet:1217 spinal atrophy ophthalmoplegia pyramidal syndrome infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms Hamano Tsukamoto syndrome Hamano-Tsukamoto syndrome GARD:0004942 MEDGEN:419294 MONDO:0015250 bulbospinal muscular atrophy