| Metadata | |
|---|---|
| ID | DOID:0061261 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061261 Copy |
| Name | lethal congenital contracture syndrome 5 |
| Definition | A lethal congenital contracture syndrome characterized by decreased fetal movements, joint contractures, hypotonia, skeletal abnormalities with thin bones, and brain and retinal hemorrhages that has_material_basis_in homozygous mutation in the DNM2 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/23092955/ |
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