Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

Definition

This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.

Also known as Sohval-Soffer syndrome — per MONDO

Also identified as