congenital myopathy 15

Term ID

DOID:0081347

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. https://pubmed.ncbi.nlm.nih.gov/33755597/

References

• OMIM:620161

Ontology

Human Disease   ( DOID:0081347 )