Term Name: | congenital myopathy 15 |
---|---|
Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0081347] ( DOID:0081347 ) |