| Metadata | |
|---|---|
| ID | DOID:0080309 |
| Name | infantile-onset myofibrillar myopathy-2B |
| Definition | A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23. https://www.ncbi.nlm.nih.gov/pubmed/23995273 |
| Xrefs | |
| Synonyms |
fatal infantile hypertonic myofibrillar myopathy [EXACT] MFM2B [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |