lethal congenital contracture syndrome 1 (Q6533262)

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A 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
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English
lethal congenital contracture syndrome 1
A 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

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