Short Stature, Microcephaly, and Endocrine Dysfunction (SSMED)

Short Stature, Microcephaly, and Endocrine Dysfunction, also known as ssmed, is related to hereditary breast ovarian cancer syndrome and aplastic anemia. An important gene associated with Short Stature, Microcephaly, and Endocrine Dysfunction is XRCC4 (X-Ray Repair Cross Complementing 4), and among its related pathways/superpathways are Homology Directed Repair and Primary ovarian insufficiency. Affiliated tissues include kidney and thyroid, and related phenotypes are cataract and sensorineural hearing impairment