Conditions / Syndrome
corneal dystrophy-perceptive deafness syndrome
info · Syndrome
A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13.
Signs and symptoms
- Opacification of the corneal stroma
- Sensorineural hearing impairment
- Corneal dystrophy
- Reduced visual acuity
Also known as: CDPD; CDPD1; Harboyan syndrome; corneal dystrophy and perceptive deafness; corneal dystrophy with progressive deafness