FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital myopathy 22A ID (Ontology) DOID:0081354 (Human Disease)
Definition 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.
Also Known As "classic congenital myopathy 22A"
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 Genes
 congenital myopathy 22A       1
 for disease ribbon | congenital myopathy 22A       1
 model of | congenital myopathy 22A       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
myopathy                         |
 |__congenital myopathy__________|
                                 congenital myopathy 22A  1 rec.
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Is a autosomal recessive disease
congenital myopathy
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Synonyms
  • "classic congenital myopathy 22A" EXACT
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MIM:620351