| Metadata | |
|---|---|
| ID | DOID:0081350 |
| Name | congenital myopathy 18 |
| Definition | A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32. https://pubmed.ncbi.nlm.nih.gov/33060286/, https://pubmed.ncbi.nlm.nih.gov/34763287/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a congenital myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |