Orphanet: Spastic paraplegia glaucoma intellectual disability syndrome
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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: G11.4
  • OMIM: 270850
  • UMLS: C1849113
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2007) Français (2007) Italiano (2007) Nederlands (2007)

Detailed information

General public

Disability

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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