Term Name: | lethal congenital contracture syndrome 1 |
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Synonyms: | LCCS1, multiple contracture syndrome, Finnish type |
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. |
Ontology: | Human Disease [DOID:0060559] ( DOID:0060559 ) |