Term Name: early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
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 )

Relationships
is a type of: autosomal recessive disease congenital myopathy