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 )

Relationships
is a type of: autosomal recessive disease congenital myopathy