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Ptosis-strabismus-ectopic pupils syndrome

Disease definition

A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.

ORPHA:2999

Classification level: Disorder
  • Synonym(s):
    • McPherson-Hall syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Childhood, Neonatal
  • ICD-10: -
  • OMIM: 178330
  • UMLS: C1867437
  • MeSH: -
  • GARD: 4577
  • MedDRA: -
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