lethal congenital contracture syndrome 1 (DOID:0060559)
Alliance: disease page
Synonyms: LCCS1; multiple contracture syndrome, Finnish type
Alt IDs: OMIM:253310, MESH:C537194, ORDO:1486, UMLS_CUI:C1854664
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.