Search Ontology:
Human Disease
lethal congenital contracture syndrome 5
- Term ID
- DOID:0061261
- Synonyms
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- 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/
- References
- Ontology
- Human Disease ( DOID:0061261 )
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Genes Involved
Zebrafish Models