ZFIN Human Disease: early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

OBO ID: DOID:0111333

Term Name:	early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome		Search Ontology:
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 OMIM:614399 ORDO:439212
Ontology:	Human Disease ( DOID:0111333 )

Relationships

is a type of:	autosomal recessive disease congenital myopathy autosomal recessive disease congenital myopathy Show first 5 Terms

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

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MEGF10	megf10	Congenital myopathy 10A, severe variant	614399

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None