Martsolf Syndrome 1 (MARTS1)

Martsolf Syndrome 1, also known as martsolf syndrome, is related to rab18 deficiency and warburg micro syndrome 1, and has symptoms including finger joint laxity An important gene associated with Martsolf Syndrome 1 is RAB3GAP2 (RAB3 GTPase Activating Non-Catalytic Protein Subunit 2), and among its related pathways/superpathways are Vesicle-mediated transport and Rab regulation of trafficking. Affiliated tissues include eye and tongue, and related phenotypes are intellectual disability and cataract