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X-linked spastic paraplegia type 16

Disease definition

A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males.

ORPHA:100997

Classification level: Disorder
  • Synonym(s):
    • SPG16
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy
  • ICD-10: G11.4
  • OMIM: 300266
  • UMLS: C1846046
  • MeSH: C536643
  • GARD: 9585
  • MedDRA: -

Detailed information

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