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Arts syndrome

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

Synonyms

  • ARTS
  • Arts
  • Arts syndrome
  • Arts syndrome, X-linked recessive
  • MRXS18
  • MRXSARTS
  • X-linked fatal ataxia with deafness and loss of vision
  • ataxia, fatal X-linked, with deafness and loss of vision
  • fatal X-linked ataxia with deafness and loss of vision
  • intellectual disability, X-linked, syndromic 18
  • intellectual disability, X-linked, syndromic, Arts type
  • lethal ataxia with deafness and optic atrophy
  • lethal ataxia-deafness-optic atrophy
  • mental retardation, X-linked, syndromic 18
  • mental retardation, X-linked, syndromic, Arts type
  • syndromic X-linked intellectual disability 18
  • syndromic X-linked intellectual disability Arts type
  • syndromic X-linked mental retardation 18
  • syndromic X-linked mental retardation Arts type
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

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MedlinePlus

MedlinePlus has information about this condition that may include a description, frequency, causes, inheritance, and links to more information. The information is written for the public, including patients, caregivers and families. MedlinePlus is a service of the National Library of Medicine (NLM), which is part of the National Institutes of Health (NIH).

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