Term Name: | X-linked deafness 7 |
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Synonyms: | DFNX7, X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome |
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. |
Ontology: | Human Disease [DOID:0111738] ( DOID:0111738 ) |