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

Term ID

DOID:0111333

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. https://www.ncbi.nlm.nih.gov/pubmed/22101682

References

• GARD:12199
• MIM:614399
• ORDO:439212

Ontology

Human Disease   ( DOID:0111333 )