/multiple congenital anomalies/dysmorphic syndrome-intellectual disability

/male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

Rare Disease

MONDO:0010617

Also Known As

Sohval-Soffer syndromehypogonadism, MALE, with intellectual disability and skeletal anomalieshypogonadism, MALE, with mental retardation and skeletal anomalies

Definition

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