Jalili Syndrome (JALIS)

Jalili Syndrome, also known as cone rod dystrophy-amelogenesis imperfecta syndrome, is related to dental caries and amelogenesis imperfecta, and has symptoms including photophobia An important gene associated with Jalili Syndrome is CNNM4 (Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 4), and among its related pathways/superpathways are Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) and 2q11.2 copy number variation syndrome. Affiliated tissues include eye and retina, and related phenotypes are nystagmus and visual impairment