/autosomal recessive nonsyndromic hearing loss 12

autosomal recessive nonsyndromic hearing loss 12

Rare Disease

MONDO:0011067

Also Known As

autosomal recessive nonsyndromic hearing loss 12DFNB12autosomal recessive deafness 12autosomal recessive nonsyndromic deafness 12autosomal recessive nonsyndromic deafness type 12deafness, autosomal recessive 12deafness, autosomal recessive 12, modifier ofdeafness, autosomal recessive type 12

Definition

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.