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X-linked deafness 1; congenital sensorineural deafness X-linked 2 (DFN2)
Genetics:
- X-linked
- associated with defects in PRPS1
Clinical manifestations:
- progressive, severe-to-profound sensorineural hearing loss in males
- females manifest mild to moderate hearing loss
General
X-linked deafness
Database Correlations
OMIM 304500
References
OMIM :accession 304500