FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital myopathy 8 ID (Ontology) DOID:0081342 (Human Disease)
Definition A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the ACTN2 gene on chromosome 1q43. Heterozygous mutation in the ACTN2 gene can also cause distal myopathy-6 (MPD6), which shows later onset and is less severe.
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 Genes
 congenital myopathy 8       1
 for disease ribbon | congenital myopathy 8       1
 model of | congenital myopathy 8       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
myopathy                        |
 |__congenital myopathy_________|
                                congenital myopathy 8  1 rec.
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Is a autosomal dominant disease
congenital myopathy
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MIM:618654