early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

Summary

DOID:0111333 - early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

Disease Ontology 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.

Synonyms: congenital myopathy 10A, EMARDD, Myopathy, areflexia, respiratory distress, and dysphagia, early-onset

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: megf10

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital myopathy (is_a)