Lethal Congenital Contracture Syndrome 1 (LCCS1)

Lethal Congenital Contracture Syndrome 1, also known as lccs1, is related to congenital arthrogryposis with anterior horn cell disease and lethal congenital contracture syndrome 3. An important gene associated with Lethal Congenital Contracture Syndrome 1 is GLE1 (GLE1 RNA Export Mediator), and among its related pathways/superpathways are Gene expression (Transcription) and Innate Immune System. Affiliated tissues include skeletal muscle and spinal cord, and related phenotypes are hypertelorism and short stature