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nemaline myopathy 11
Summary
- Synonym
-
- NEM11
- nemaline myopathy 11, autosomal recessive
- Definition
- A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21.
- Super Class
- autosomal recessive disease nemaline myopathy
External Links
- Disease Ontology
- DOID:0110933
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001561 | Polyhydramnios |
| HP:0003306 | Spinal rigidity |
| HP:0000774 | Narrow chest |
| HP:0002355 | Difficulty walking |
| HP:0000316 | Hypertelorism |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0001290 | Generalized hypotonia |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0001989 | Fetal akinesia sequence |
| HP:0000275 | Narrow face |
