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early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Summary
- Synonym
-
- EMARDD
- Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
- congenital myopathy 10A
- 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.
- Super Class
- autosomal recessive disease congenital myopathy
External Links
- Disease Ontology
- DOID:0111333
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
