A rare ciliopathy characterized by progressive hearing and visual loss in the first decades of life and, in some cases, vestibular dysfunction. Patients have normal hearing at birth. Onset of hearing loss is usually in late childhood or adolescence after development of speech. Profound deafness is mostly reported by middle age. Retinitis pigmentosa related visual loss also develops in late childhood or adolescence. Developmental motor milestones are generally normal but vestibular dysfunction may occur in adulthood.



This is just here as a test because I lose it

Term information

database cross reference
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231183
  • UMLS:C1568248
  • ICD-10:H35.5
  • OMIM:276902
  • OMIM:500004
  • OMIM:614504
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409947
  • http://www.orpha.net/ORDO/Orphanet_409946
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409977
  • http://www.orpha.net/ORDO/Orphanet_409976
  • ORPHA:231183
  • Clinical subtype
part of
  • http://www.orpha.net/ORDO/Orphanet_886
present in
  • http://www.orpha.net/ORDO/Orphanet_409992
  • http://www.orpha.net/ORDO/Orphanet_410051
  • http://www.orpha.net/ORDO/Orphanet_409984