Orphanet: Spastic tetraplegia retinitis pigmentosa intellectual disability syndrome
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Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Disease definition

A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.

ORPHA:3011

Classification level: Disorder
  • Synonym(s):
    • Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 270950
  • UMLS: C1849112
  • MeSH: -
  • GARD: 4932
  • MedDRA: -
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