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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:0001288 | Gait disturbance |
| HP:0001319 | Neonatal hypotonia |
| HP:0002093 | Respiratory insufficiency |
| HP:0002515 | Waddling gait |
| HP:0002650 | Scoliosis |
| HP:0002808 | Kyphosis |
| HP:0002827 | Hip dislocation |
| HP:0002857 | Genu valgum |
| HP:0002877 | Nocturnal hypoventilation |
| HP:0002970 | Genu varum |
