| Metadata | |
|---|---|
| ID | DOID:0061263 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061263 Copy |
| Name | lethal congenital contracture syndrome 7 |
| 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. https://pubmed.ncbi.nlm.nih.gov/24319099/, https://pmc.ncbi.nlm.nih.gov/articles/PMC12969965/ |
| Xrefs | |
| SKOS |
exactMatch GARD:0018564 exactMatch MIM:616286 exactMatch UMLS_CUI:C4225386 |
| Subsets |
DO_rare_slim |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |