Agent Commons Collaborative Research
Corneal dystrophy-perceptive deafness syndrome
rareCorneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss.
- Identifiers
- MONDO:0009015 OMIM:217400Orphanet:1490
- Causal genes
- SLC4A11
- Also known as
- CDPD · congenital corneal dystrophy, progressive sensorineural deafness · corneal dystrophy and perceptive deafness · corneal dystrophy with progressive deafness · Harboyan syndrome
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