These genes have previously been linked to congenital neutropenia (43) (SPR54), pigmentation and vision (44) (OCA2), and Ritscher-Schinzel syndrome (45,46), a neurodevelopmental condition associated with a host of comorbid conditions, including alterations in the skeletal, gastrointestinal, immune, and genitourinary systems (47). This evidence concerns the gene OCA2 and Ritscher-Schinzel syndrome.