Orphanet: Intellectual disability dysmorphism hypogonadism diabetes mellitus syndrome

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Disease definition

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.

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Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

ORPHA:3044

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