Human genes for corneal dystrophy-perceptive deafness syndrome
Corneal dystrophy-perceptive deafness syndrome [DOID:0111620]
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 SLC4A11 on chromosome 20p13.
Synonyms: corneal dystrophy-perceptive deafness syndrome, corneal dystrophyperceptive deafness syndrome, corneal dystrophy-perceptive deafness disease, corneal dystrophy-perceptive deafness disorder, corneal dystrophy-perceptive deafness syndromes ...