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congenital myopathy 2B
Summary
- 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.
- Super Class
- autosomal recessive disease congenital myopathy
External Links
- Disease Ontology
- DOID:0081339
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001522 | Death in infancy |
| HP:0002421 | Poor head control |
| HP:0001252 | Hypotonia |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0002015 | Dysphagia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003324 | Generalized muscle weakness |
| HP:0001662 | Bradycardia |
| HP:0003577 | Congenital onset |
| HP:0001290 | Generalized hypotonia |
