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GENATLAS PHENOTYPE
last update : 24-09-2010
Symbol PHARC
Location 20p11.21
Name polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Corresponding gene ABHD12
Main clinical features
  • early-onset cataract and hearing loss, retinitis pigmentosa, and involvement of both the central and peripheral nervous systems, including demyelinating sensorimotor polyneuropathy and cerebellar ataxia
  • Genetic determination autosomal recessive
    Related entries also cases with isolated retinitis pigmentosa (PMID: 24697911)
    Function/system disorder ear
    eye
    neurology
    Type disease
    Remark(s)