Term Name: X-linked deafness 1
Synonyms: DFN2, DFNX1, X-linked sensorineural congenital deafness 2
Definition: An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3.
Ontology: Human Disease [DOID:0111739]   ( DOID:0111739 )

Relationships
is a type of: X-linked nonsyndromic deafness