Visualize Submit Comment

Metadata
ID	DOID:0081345
Name	congenital myopathy 10B
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. https://pubmed.ncbi.nlm.nih.gov/29128256/
Xrefs	MIM:620249
Parent Relationships	is_a congenital myopathy is_a autosomal recessive disease