Case Reports in Endocrinology / 2018 / Article / Tab 4

Case Report

Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association

Table 4

Summary of clinical features seen in 21 patients [4] with EHMT1 mutations and in the index patient.

Clinical Features in 21 patientsIndex Patient

Short Stature17-
Overweight (BMI>25)42+
Developmental Delay/Intellectual Disability100+
Heart defect43-
Genital anomaly (in males)43+
Renal anomaly14-
Recurrent Infections64+
Hearing deficit24+
Gastro-esophageal reflux14-
Epilepsy24-
Behavioral/psychiatric problems75-
Anomalies on brain imaging63-
Tracheomalacia5-
Umbilical/inguinal hernia10-
Anal atresia5-
Musculoskeletal anomaly19-
Respiratory complications5-

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