You are using an outdated browser. Please upgrade your browser to improve your experience.

Bailey-Bloch congenital myopathy

Disease Summary
Associated Targets (1)


Explore Associated Targets
Mondo Description Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.
Uniprot Description A disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia.
Disease Ontology Description A neuromuscular disease characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia; that has material basis in homozygous mutation in the STAC3 gene on chromosome 12q13.
Mondo Term and Equivalent IDs
MONDO:0009722:  Bailey-Bloch congenital myopathy
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)