Encephalocraniocutaneous Lipomatosis (ECCL)

Encephalocraniocutaneous Lipomatosis, also known as haberland syndrome, is related to lipomatosis and oculoectodermal syndrome. An important gene associated with Encephalocraniocutaneous Lipomatosis is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Breast cancer pathway and NF-kappaB Pathway. Affiliated tissues include skin and spinal cord, and related phenotypes are intellectual disability and seizure