| Term Name: | congenital myopathy 22B |
|---|---|
| Synonyms: | |
| 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. |
| Ontology: | Human Disease [DOID:0081355] ( DOID:0081355 ) |