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corneal dystrophy & perceptive deafness; corneal dystrophy & sensorineural deafness; Harboyan syndrome
Pathology:
- corneal endothelial dystrophy
Genetics:
- autosomal recessive
- associated with defects in SLC4A11
Clinical manifestations:
- congenital corneal dystrophy
- progressive perceptive deafness
General
genetic disease of the eye
genetic disease of the auditory system
corneal disease (keratopathy)
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 217400
References
OMIM :accession 217400