Geleophysic Dysplasia 1 (GPHYSD1)

Geleophysic Dysplasia 1, also known as gphysd1, is related to geleophysic dysplasia and acromicric dysplasia, and has symptoms including seizures and thick skin. An important gene associated with Geleophysic Dysplasia 1 is ADAMTSL2 (ADAMTS Like 2), and among its related pathways/superpathways are Phospholipase-C Pathway and Extracellular matrix organization. Affiliated tissues include bone and trachea, and related phenotypes are seizure and osteopenia