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autosomal recessive nonsyndromic deafness 32

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3.
Uniprot Description A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB32 is characterized by prelingual, progressive, moderate to profound sensorineural deafness. Some affected men are infertile.
Mondo Term and Equivalent IDs
MONDO:0012091:  autosomal recessive nonsyndromic deafness 32
MESH:C563884: 
UMLS:C1837608: