For example, the male proband in Family C1 (p.(Asp34Asn)); whose functional studies were consistent with a LOF of ClC-4, has short stature and distinctive skeletal and facial features consistent with a diagnosis of Desbuquois dysplasia (XYLT1-related) that he shares with his sister. The gene discussed is CLCN4; the disease is Desbuquois dysplasia.