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

More general terms

• genetic disease of the eye
• genetic disease of the auditory system
• corneal disease (keratopathy)
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/217400