lethal congenital contracture syndrome 1 (Q6533262)
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lethal congenital contracture syndrome that has material basis in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34
- LCCS1
- multiple contracture syndrome, Finnish type
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | lethal congenital contracture syndrome 1 |
lethal congenital contracture syndrome that has material basis in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34 |
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