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Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

Disease definition

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

ORPHA:2234

Classification level: Disorder
  • Synonym(s):
    • Sohval-Soffer syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 307500
  • UMLS: C2931285
  • MeSH: -
  • GARD: 4899
  • MedDRA: -
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