| Term Name: | lethal congenital contracture syndrome 10 |
|---|---|
| Synonyms: | |
| 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. |
| Ontology: | Human Disease [DOID:0061266] ( DOID:0061266 ) |