FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital myopathy 2B ID (Ontology) DOID:0081339 (Human Disease)
Definition A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42.
Also Known As "autosomal recessive congenital myopathy 2B"
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 Genes
 congenital myopathy 2B       6
 for disease ribbon | congenital myopathy 2B       6
 model of | congenital myopathy 2B       6
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
myopathy                         |
 |__congenital myopathy__________|
                                 congenital myopathy 2B  6 rec.
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Is a autosomal recessive disease
congenital myopathy
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Synonyms
  • "autosomal recessive congenital myopathy 2B" EXACT
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MIM:620265