FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital myopathy 18 ID (Ontology) DOID:0081350 (Human Disease)
Definition A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32.
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 Genes
 congenital myopathy 18       1
 for disease ribbon | congenital myopathy 18       1
 model of | congenital myopathy 18       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease___
 |__autosomal recessive disease__|
myopathy                         |
 |__congenital myopathy__________|
                                 congenital myopathy 18  1 rec.
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Is a autosomal dominant disease
autosomal recessive disease
congenital myopathy
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MIM:620246