As it has been shown before, the phenotype caused by a coding mutation of a developmental gene can be different from the phenotype caused by a mutation in a CRE controlling spatiotemporal expression of this gene; this is exemplified by the PRDM13 locus, for which bi-allelic coding PRDM13 variants result in hypogonadotropic hypogonadism and perinatal brainstem dysfunction in combination with cerebellar hypoplasia52 while cis-regulatory variants in retinal CREs leads to NCMD, a developmental macular disease18. Here, PRDM13 is linked to North Carolina macular dystrophy.