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Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

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.

ORPHA:3044

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: 249599
  • UMLS: C1855303
  • MeSH: -
  • GARD: 9811
  • MedDRA: -
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