Term Name:	congenital myopathy 10B
Synonyms:
Definition:	A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features.
Ontology:	Human Disease [DOID:0081345]   ( DOID:0081345 )