DISEASES

Disease-gene associations mined from literature

Human genes for lethal congenital contracture syndrome 1

Lethal congenital contracture syndrome 1 [DOID:0060559]

A lethal congenital contracture syndrome that has material basis in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34.

Synonyms:  lethal congenital contracture syndrome 1,  DOID:0060559,  LCCS1,  multiple contracture syndrome, Finnish type,  Finnish type multiple contracture syndrome ...