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Spastic paraplegia-precocious puberty syndrome

Disease definition

Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.

ORPHA:2826

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: G11.4
  • OMIM: 182820
  • UMLS: C1866850
  • MeSH: C536874
  • GARD: 4918
  • MedDRA: -

Detailed information

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