Variations on CLCN7 causes Hypopigmentation, organomegaly, and delayed myelination and development (OMIM: 618541) and autosomal dominant Osteopetrosis (OMIM: 166600) which causes organomegaly including enlargement of liver, kidney, and spleen and since the patient had pyelocalyceal dilation we could theorize that the kidney affection could be cause by the heterozygous pathogenic variant in CLCN7. 41, 42, 43. The gene discussed is CLCN7; the disease is autosomal dominant osteopetrosis.