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| Term | congenital myopathy 15 | ID (Ontology) | DOID:0081347 (Human Disease) |
| 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. | ||
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autosomal genetic disease |__autosomal dominant disease__ myopathy | |__congenital myopathy_________| congenital myopathy 15 |
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autosomal dominant disease congenital myopathy |
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| MIM:620161 | |||