Native American myopathy (DOID:0060346)
Alliance: disease page
Synonyms: Bailey-Bloch congenital myopathy; congenital myopathy 13
Alt IDs: OMIM:255995, MESH:C538343, ORDO:168572, UMLS_CUI:C1850625
Definition: 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.