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Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

Disease definition

Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

ORPHA:280679

Classification level: Disorder
  • Synonym(s):
    • Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: All ages
  • ICD-10: -
  • OMIM: 300845
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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