| Metadata | |
|---|---|
| ID | DOID:0081348 |
| Name | congenital myopathy 16 |
| Definition | A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. https://pubmed.ncbi.nlm.nih.gov/31025394/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a congenital myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |