Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
ORPHA:2234· ICD-10 Q87.8
Definition
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Unknown
- Age of onset
- Neonatal