| Term Name: | lethal congenital contracture syndrome 7 |
|---|---|
| Synonyms: | |
| Definition: | A lethal congenital contracture syndrome characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that has_material_basis_in homozygous mutation in the CNTNAP1 gene on chromosome 17q21. |
| Ontology: | Human Disease [DOID:0061263] ( DOID:0061263 ) |