ALPK1 and retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome: Two additional unrelated families with ROSAH syndrome were identified (family 4 [Virginia] and family 5 [Delaware]), and affected members were found to be heterozygous for the ALPK1, (c.710C>T, [p.Thr237Met]) variant, which arose de novo in the Delaware patient.