1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0081354 | congenital myopathy 22A | A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0081337 | congenital myopathy | A myopathy that is characterized by hypotonia and weakness, usually present from birth. |
