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 patients	Index Patient
Short Stature	17	-
Overweight (BMI>25)	42	+
Developmental Delay/Intellectual Disability	100	+
Heart defect	43	-
Genital anomaly (in males)	43	+
Renal anomaly	14	-
Recurrent Infections	64	+
Hearing deficit	24	+
Gastro-esophageal reflux	14	-
Epilepsy	24	-
Behavioral/psychiatric problems	75	-
Anomalies on brain imaging	63	-
Tracheomalacia	5	-
Umbilical/inguinal hernia	10	-
Anal atresia	5	-
Musculoskeletal anomaly	19	-
Respiratory complications	5	-