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Spastic paraplegia-glaucoma-intellectual disability syndrome

Disease definition

Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.

ORPHA:2818

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: -
  • OMIM: 270850
  • UMLS: C1849113
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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