Five other probands (JC-35-3, JC-37-3, JC-41-3, JC-58-3, and MC-32-3) had coding variants in neurodevelopmental disease genes: RTTN (MIM #614833)45, RPGRIP1L (MIM #619113, #611560, #611561)46–48, CDK10 (MIM # 617694)49, AARS (MIM #613287, #616339)50,51, TENM3 (MIM #615145)52, and DCHS1 (MIM #601390)53–55. The gene discussed is RPGRIP1L; the disease is glycogen storage disease VI.