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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:0002515 | Waddling gait |
| HP:0001270 | Motor delay |
| HP:0003546 | Exercise intolerance |
| HP:0001638 | Cardiomyopathy |
| HP:0003691 | Scapular winging |
| HP:0001371 | Flexion contracture |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0000467 | Neck muscle weakness |
| HP:0002068 | Neuromuscular dysphagia |
| HP:0000218 | High palate |
