| Metadata | |
|---|---|
| ID | DOID:0081351 |
| Name | congenital myopathy 19 |
| Definition | A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36. https://pubmed.ncbi.nlm.nih.gov/31092906/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal recessive disease is_a congenital myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |