|OBO ID: DOID:0111333|
|Term Name:||early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome||Search 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. https://www.ncbi.nlm.nih.gov/pubmed/22101682|
|Ontology:||Human Disease (DOID:0111333)|
|is a type of:||
OTHER early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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