FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital myopathy 9B ID (Ontology) DOID:0081344 (Human Disease)
Definition A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A.
Also Known As "ongenital proximal myopathy 9B with minicore lesions"
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 Genes
 congenital myopathy 9B       1
 for disease ribbon | congenital myopathy 9B       1
 model of | congenital myopathy 9B       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
myopathy                         |
 |__congenital myopathy__________|
                                 congenital myopathy 9B  1 rec.
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Is a autosomal recessive disease
congenital myopathy
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Synonyms
  • "ongenital proximal myopathy 9B with minicore lesions" EXACT
Secondary IDs
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MIM:618823