Term Name: | early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome |
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Synonyms: | congenital myopathy 10A, EMARDD, Myopathy, areflexia, respiratory distress, and dysphagia, early-onset |
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. |
Ontology: | Human Disease [DOID:0111333] ( DOID:0111333 ) |