MEGF10-related myopathy
A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.
MONDO:0019952
congenital myopathy
is_a
EMARDD
related
MEGF10 myopathy
exact
MEGF10-related myopathy
exact
congenital myopathy 10A, severe variant
exact
early-onset myopathy, areflexia, respiratory distress and dysphagia
related
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
related
myopathy, areflexia, respiratory distress, and dysphagia, early-onset
related