DO_rare_slim has material basis in has symptom autosomal recessive disease congenital myopathy 13 DOID:0060346 2015-06-01T17:47:31Z A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. UMLS_CUI:C1850625 MIM:255995 Bailey-Bloch congenital myopathy ORDO:168572 SNOMEDCT_US_2025_09_01:723439002 disease_ontology MESH:C538343 GARD:8432 Native American myopathy STAC3 disorder congenital myopathy autosomal recessive inheritance muscle weakness ptosis