Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene

Case Reports in Endocrinology
05 Oct, 2018 ,

Kleefstra syndrome is characterized by intellectual disability and childhood hypotonia with associated distinctive facial dysmorphisms We describe a case of an adolescent male diagnosed with Kleefstra syndrome due to a de novo pathogenic variant c27121G>A in the EHMT1 gene and isolated micropenis