- X-linked fatal ataxia with deafness and loss of vision
- Lethal ataxia-deafness-optic atrophy
- Lethal ataxia with deafness and optic atrophy
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Boys with Arts syndrome also have problems with their immune system that lead to recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood.
Females can also be affected by Arts syndrome, but they typically have much milder symptoms. In some cases, hearing loss that begins in adulthood may be the only symptom.
The Human Phenotype Ontology provides the following list of signs and symptoms for Arts syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Arts syndrome. Genetics Home Reference (GHR). August 2009; http://ghr.nlm.nih.gov/condition/arts-syndrome. Accessed 4/8/2014.