early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome (DOID:0111333)
Alliance: disease page
Synonyms: congenital myopathy 10A; EMARDD; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
Alt IDs: OMIM:614399, ORDO:439212
Definition: A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2.