| Term Name: | infantile-onset myofibrillar myopathy-2B |
|---|---|
| Synonyms: | fatal infantile hypertonic myofibrillar myopathy, MFM2B |
| Definition: | A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23. |
| Ontology: | Human Disease [DOID:0080309] ( DOID:0080309 ) |