| 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 | |
| Parent Relationships |
is_a congenital myopathy |