| Metadata | |
|---|---|
| ID | DOID:0081341 |
| Name | congenital myopathy 5 |
| Definition | A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31. https://pubmed.ncbi.nlm.nih.gov/24105469/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital myopathy-5 with cardiomyopathy [EXACT] Salih myopathy [EXACT] |
| Parent Relationships |
is_a congenital myopathy |