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1.

Arts syndrome

Arts syndrome, which is part of the spectrum of PRPS1-related disorders, is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection, all of which (with the exception of optic atrophy) present before age two years. Signs of peripheral neuropathy develop during early childhood. Twelve of 15 boys from the two Dutch families reported with Arts syndrome died before age six years of complications of infection. Carrier females can show late-onset (age >20 years) hearing impairment and other findings. [from GeneReviews]

MedGen UID:
163205
Concept ID:
C0796028
Disease or Syndrome
2.

Quality of life satisfaction

The overall enjoyment of life. Many clinical trials assess the effects of cancer and its treatment on the quality of life. These studies measure aspects of an individual's sense of well-being and ability to carry out various activities. [from NCI]

MedGen UID:
105434
Concept ID:
C0518214
Finding

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