| Term Name: | lethal congenital contracture syndrome 8 |
|---|---|
| Synonyms: | |
| Definition: | A lethal congenital contracture syndrome characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that has_material_basis_in homozygous or compound heterozygous mutation in the ADCY6 gene on chromosome 12q13. |
| Ontology: | Human Disease [DOID:0061264] ( DOID:0061264 ) |