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X-linked deafness 7
Summary
- Synonym
-
- 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.
- Super Class
- X-linked nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0111738
- Mondo Disease Ontology
- ORDO
- OMIM
