A new autosomal recessive syndrome with Noonan-like phenotype, myopathy with congenital contractures and malignant hyperthermia.
D002675:Child, Preschool; D003286:Contracture / Q000151:congenital*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008305:Malignant Hyperthermia / Q000235:genetics*; D009135:Muscular Diseases / Q000235:genetics*; D009634:Noonan Syndrome / Q000175:diagnosis*; D010641:Phenotype; D013577:Syndrome