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nemaline myopathy 3
Summary
- Synonym
-
- NEM3
- congenital myopathy 2A
- nemaline myopathy 3, autosomal dominant or recessive
- Definition
- A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.
- Super Class
- autosomal recessive disease nemaline myopathy
External Links
- Disease Ontology
- DOID:0110927
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003198 | Myopathy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003306 | Spinal rigidity |
| HP:0003307 | Hyperlordosis |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0003722 | Neck flexor weakness |
| HP:0000276 | Long face |
| HP:0000467 | Neck muscle weakness |
| HP:0001290 | Generalized hypotonia |
