X-linked deafness 7 (DOID:0111738)
Alliance: disease page
Synonyms: DFNX7; X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Alt IDs: OMIM:301018, ORDO:500188
Definition: An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1.