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 )

Relationships
is a type of: autosomal dominant disease congenital myopathy