Term Name: X-linked deafness 7
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 )

Relationships
is a type of: X-linked nonsyndromic deafness