Synonym(s): - CDPD - Corneal dystrophy with progressive deafness - Harboyan syndrome
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare otorhinolaryngologic disease Entire classification		Classification (ICD10): - Diseases of the eye and adnexa - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C535473
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
SLC4A11	Q8NBS3	610206

- Autosomal recessive inheritance
- Corneal clouding / opacity / vascularisation
- Corneal dystrophy
- Sensorineural deafness / hearing loss
- Visual loss / blindness / amblyopia

- Nystagmus