| Metadata | |
|---|---|
| ID | DOID:0081347 |
| Name | congenital myopathy 15 |
| Definition | A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding. https://pubmed.ncbi.nlm.nih.gov/33755597/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a congenital myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |