Although we cannot rule out the possibility that these three genes might contribute to the proband phenotype, they harbor variants of unclear significance that were either not associated previously with any human condition (ABCC1 and ARHGEF10) or have reported roles in human genetic disorders that do not overlap with the proband phenotype (neonatal respiratory distress, ABCA3 [54, 55]). The gene discussed is ABCC1; the disease is hereditary disease.