Term Name: | Native American myopathy |
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Synonyms: | Bailey-Bloch congenital myopathy, congenital myopathy 13 |
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. |
Ontology: | Human Disease [DOID:0060346] ( DOID:0060346 ) |