Paraplegia-intellectual disability-hyperkeratosis syndrome
Synonyms: Fitzsimmons-McLachlan-Gilbert syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Paraplegia-intellectual disability-hyperkeratosis syndrome?
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