OBO ID: DOID:0111333
Term Name: early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Search Ontology:
Synonyms:
  • 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:
Ontology: Human Disease   (DOID:0111333)
OTHER early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 614399
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant 614399
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None