| Metadata | |
|---|---|
| ID | DOID:0061266 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061266 Copy |
| Name | lethal congenital contracture syndrome 10 |
| Definition | A lethal congenital contracture syndrome characterized by fetal akinesia, multiple contractures, shortening of upper and lower limbs, and narrow chest and thorax that has_material_basis_in homozygous mutation in the NEK9 gene on chromosome 14q24. https://pubmed.ncbi.nlm.nih.gov/26908619/ |
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