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nemaline myopathy 7
Summary
- Synonym
-
- NEM7
- nemaline myopathy 7, autosomal recessive
- Definition
- A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13.
- Super Class
- autosomal recessive disease nemaline myopathy
External Links
- Disease Ontology
- DOID:0110934
- Mondo Disease Ontology
- MeSH
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001319 | Neonatal hypotonia |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0002093 | Respiratory insufficiency |
| HP:0000767 | Pectus excavatum |
| HP:0002877 | Nocturnal hypoventilation |
| HP:0000218 | High palate |
| HP:0002650 | Scoliosis |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0001288 | Gait disturbance |
| HP:0003327 | Axial muscle weakness |
