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MIRAGE
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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0002970 | Genu varum |
| HP:0011968 | Feeding difficulties |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0003198 | Myopathy |
| HP:0010628 | Facial palsy |
| HP:0000767 | Pectus excavatum |
| HP:0001349 | Facial diplegia |
| HP:0002857 | Genu valgum |
| HP:0003798 | Nemaline bodies |
