Term Name: corneal dystrophy-perceptive deafness syndrome
Synonyms: CDPD, CDPD1, corneal dystrophy and perceptive deafness, corneal dystrophy with progressive deafness, corneal endothelial dystrophy and perceptive deafness, Harboyan syndrome
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.
Ontology: Human Disease [DOID:0111620]   ( DOID:0111620 )

Relationships
is a type of: autosomal recessive disease syndrome