Case 1.6.1 of 21-year-old male with clubbing of digits, Erlenmeyer flask deformity of distal tibia and fibula, thrombocytopenia and bilateral polycystic kidneys was identified to have a novel homozygous pathogenic variant c.325delG causing protein truncation p.Ala109LeufsTer64 in SLCO2A1 gene diagnosing it as primary hypertrophic osteoarthropathy, autosomal recessive 2 (PHOAR2) [20]. The gene discussed is SLCO2A1; the disease is polycystic kidney disease.