Paraplegia-intellectual disability-hyperkeratosis syndrome

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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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Paraplegia-intellectual disability-hyperkeratosis syndrome?

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