ALPK1 and retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome: Whole-exome sequencing analysis of the proband and asymptomatic parental controls (Figure 3A) revealed a de novo heterozygous ALPK1 variant (NM_025144: c.710C>T, p.Thr237Met) (Figure 3B), consistent with the clinical phenotype of ROSAH syndrome.