Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

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Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Synonyms: Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome

A rare genetic syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis retinitis pigmentosa intellectual disability and variable deafness. There have been no further descriptions in the literature since 1976.

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 April 2024

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