| Metadata | |
|---|---|
| ID | DOID:0060559 |
| Name | lethal congenital contracture syndrome 1 |
| Definition | A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/9683599 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715418007 |
| Subsets |
DO_rare_slim |
| Synonyms |
LCCS1 [EXACT] multiple contracture syndrome, Finnish type [EXACT] |
| Parent Relationships |