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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:0002515 | Waddling gait |
| HP:0001265 | Hyporeflexia |
| HP:0003198 | Myopathy |
| HP:0000470 | Short neck |
| HP:0002827 | Hip dislocation |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0001371 | Flexion contracture |
| HP:0000275 | Narrow face |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0003306 | Spinal rigidity |
