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Paraplegia-intellectual disability-hyperkeratosis syndrome

Disease definition

A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.

ORPHA:2824

Classification level: Disorder
  • Synonym(s):
    • Fitzsimmons-McLachlan-Gilbert syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy
  • ICD-10: G82.1
  • OMIM: 309560
  • UMLS: C2745996
  • MeSH: -
  • GARD: 2344
  • MedDRA: -
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