corneal dystrophy-perceptive deafness syndrome (DOID:0111620)
Alliance: disease page
Synonyms: CDPD; CDPD1; corneal dystrophy and perceptive deafness; corneal dystrophy with progressive deafness; corneal endothelial dystrophy and perceptive deafness; Harboyan syndrome
Alt IDs: OMIM:217400, MESH:C535473, ORDO:1490, UMLS_CUI:C1857572
Definition: 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.