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Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990.
ORPHA:3044Classification level: Disorder
- Guidance for genetic testing
- Français (2016, pdf)