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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:0010628 | Facial palsy |
| HP:0005855 | Multiple prenatal fractures |
| HP:0011968 | Feeding difficulties |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0009058 | Increased muscle lipid content |
| HP:0007010 | Poor fine motor coordination |
| HP:0008180 | Mildly elevated creatine kinase |
| HP:0009055 | Generalized limb muscle atrophy |
| HP:0003810 | Late-onset distal muscle weakness |
| HP:0008872 | Feeding difficulties in infancy |
