FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital myopathy 10B ID (Ontology) DOID:0081345 (Human Disease)
Definition A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features.
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 Genes
 congenital myopathy 10B       1
 for disease ribbon | congenital myopathy 10B       1
 model of | congenital myopathy 10B       1
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autosomal genetic disease
 |__autosomal recessive disease__
myopathy                         |
 |__congenital myopathy__________|
                                 congenital myopathy 10B  1 rec.
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Is a autosomal recessive disease
congenital myopathy
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MIM:620249