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.
Synonyms:
USH3
This is just here as a test because I lose it
Term information
database
cross reference
- ICD-10:H35.5 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD10 code is attributed by Orphanet).)
- OMIM:614504 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- OMIM:500004 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- UMLS:C1568248 (E (Exact mapping: the two concepts are equivalent))
- OMIM:276902 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
definition citation
- Orphanet
expertlink
- https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231183
hasDbXref
- 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
notation
- 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