| Metadata | |
|---|---|
| ID | DOID:0061264 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061264 Copy |
| Name | lethal congenital contracture syndrome 8 |
| 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. https://pubmed.ncbi.nlm.nih.gov/24319099/ |
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