| Metadata | |
|---|---|
| ID | DOID:0081355 |
| Name | congenital myopathy 22B |
| Definition | A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. https://pubmed.ncbi.nlm.nih.gov/26700687/ |
| Xrefs | |
| Parent Relationships |
is_a congenital myopathy |