| Metadata | |
|---|---|
| ID | DOID:0081344 |
| Name | congenital myopathy 9B |
| Definition | A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A. https://pubmed.ncbi.nlm.nih.gov/30770808/ |
| Xrefs | |
| Parent Relationships |
is_a congenital myopathy |