Besides the HPS5 variant, which we detected homozygous in the severely affected mother (IP2), we identified a heterozygous VUS in the gene VPS33B. According to OMIM alterations in the gene VPS33B are autosomal recessive associated with ARC (Arthrogryposis, renal dysfunction, and cholestasis). The gene discussed is HPS5; the disease is Abnormal renal physiology.