| Metadata | |
|---|---|
| ID | DOID:0061257 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061257 Copy |
| Name | congenital myopathy 26 |
| Definition | A congenital myopathy characterized by limb muscle weakness and mild motor delay apparent from infancy that has_material_basis_in heterozygous mutation in the TUBA4A gene on chromosome 2q35. https://pubmed.ncbi.nlm.nih.gov/38413182/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a congenital myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |