Oculoskeletodental Syndrome (OCSKD)

Oculoskeletodental Syndrome, is also known as cataracts, early-onset, with skeletal and dental anomalies. An important gene associated with Oculoskeletodental Syndrome is PIK3C2A (Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Alpha). Affiliated tissues include bone and eye, and related phenotypes are coarse facial features and hearing impairment