| Metadata | |
|---|---|
| ID | DOID:0081349 |
| Name | congenital myopathy 17 |
| Definition | A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15. https://pubmed.ncbi.nlm.nih.gov/30403323/ |
| Xrefs | |
| Parent Relationships |
is_a congenital myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |