Usher syndrome
Description
A rare ciliopathy characterized by congenital or childhood onset sensorineural hearing loss (HL) and retinitis pigmentosa (RP) that occurs in a second step with a night blindness and a progressive vision loss and, in some cases, vestibular dysfunction.
Cell Lines
- RIi011-A
- KLRMMEi002-A
- KLRMMEi003-A
- WTSIi447-A
- WTSIi447-B
- WTSIi450-A
- WTSIi450-B
- WTSIi453-A
- WTSIi454-A
- WTSIi454-B
- WTSIi464-A
- WTSIi464-B
- WTSIi474-A
- WTSIi474-B
- WTSIi486-A
- WTSIi486-B
- WTSIi487-A
- WTSIi488-A
- WTSIi488-B
- WTSIi510-A
- WTSIi510-B
- WTSIi516-A
- WTSIi516-B
- WTSIi522-A
- WTSIi522-B
- WTSIi527-A
- WTSIi527-B
- WTSIi548-A
- WTSIi548-B
- WTSIi576-A
- WTSIi669-A
- WTSIi669-B
Link
For more information, please consult the corresponding entry in Orphanet* .
*Orphanet: an online rare disease and orphan drug data base. Copyright, INSERM 1999. Available on http://www.orpha.net.