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Metadata
ID	DOID:0081339
Name	congenital myopathy 2B
Definition	A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42. https://pubmed.ncbi.nlm.nih.gov/25182138/
Xrefs	MIM:620265
Parent Relationships	is_a congenital myopathy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance