Term Name: | congenital myopathy 22B |
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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 ) |