| Term Name: | lethal congenital contracture syndrome 5 |
|---|---|
| Synonyms: | |
| 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. |
| Ontology: | Human Disease [DOID:0061261] ( DOID:0061261 ) |