Version: 8.0.0
Date: Tue Jan 28 2025
congenital myopathy 15
DOID:0081347
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
None
Cross References
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Sources of Associations

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