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

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/301835