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ARTS syndrome; fatal ataxia X-linked with deafness & loss of vision
Genetics:
- X-linked
- associated with defects in PRPS1
Clinical manifestations:
- mental retardation
- early-onset hypotonia
- ataxia
- delayed motor development
- hearing impairment
- optic atrophy
- susceptibility to infections, especially upper respiratory tract infection
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 301835
References
OMIM :accession 301835