identified the biallelic missense variant c.823G>C (p.Asp275His) of the GSDMD (Gasdermin D) gene in a GSD patient with osteolysis of the distal phalanx of the left 4th, right 2nd, and 3rd digits, without lymphangiomatous proliferation observed in bone biopsy (89). Here, GSDMD is linked to disorder of glycogen metabolism.