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NIH GARD Information: Arts syndrome

This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).

Synonyms

  • ARTS
  • X-linked fatal ataxia with deafness and loss of vision
  • Lethal ataxia-deafness-optic atrophy
  • Lethal ataxia with deafness and optic atrophy

Overview

Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Arts syndrome is caused by mutations in the PRPS1 gene which is located on the X chromosome. It is inherited in an X-linked recessive manner.[7334]

For more information, visit GARD.

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