| Metadata | |
|---|---|
| ID | DOID:0111222 |
| Name | centronuclear myopathy 5 |
| Definition | An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35. https://www.ncbi.nlm.nih.gov/pubmed/25087613 |
| Xrefs | |
| Synonyms |
CNM5 [EXACT] |
| Parent Relationships |