Term Name: Native American myopathy
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 )

Relationships
is a type of: autosomal recessive disease congenital myopathy