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Autosomal recessive spastic paraplegia type 18

Disease definition

Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.

ORPHA:209951

  • Synonym(s):
    • SPG18
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: G11.4
  • OMIM: 611225
  • UMLS: C2749936
  • MeSH: -
  • GARD: 4922
  • MedDRA: -

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