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Bailey-Bloch congenital myopathy
rareBailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.
- Identifiers
- MONDO:0009722 OMIM:255995Orphanet:168572
- Causal genes
- STAC3
- Part of
- Congenital myopathyCongenital nervous system disorderHereditary neurological diseaseHereditary skeletal muscle disorder
- Also known as
- congenital myopathy - cleft palate - malignant hyperthermia · congenital myopathy cleft palate and malignant hyperthermia · congenital myopathy-cleft palate-malignant hyperthermia syndrome · myopathy, congenital, baily-bloch · NAM
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