autosomal recessive nonsyndromic hearing loss 12

Autosomal recessive nonsyndromic hearing loss 12 is a genetic condition that affects hearing. It is caused by changes in the CDH23 gene and is inherited in an autosomal recessive pattern, meaning a person needs to inherit a copy of the changed gene from each parent in order to have the condition. This condition is characterized by a prelingual onset, which means that hearing loss is present before a child starts speaking. The hearing loss is described as severe to profound and remains stable over time. The information provided emphasizes the genetic basis of the disorder and its impact on hearing from an early age.

People with this condition experience severe to profound hearing loss that is present from an early age (prelingual onset). The hearing loss remains stable over time. There are no additional syndromic features mentioned beyond the hearing loss.

This condition is caused by mutations in the CDH23 gene located on chromosome 10q22. Since it is inherited in an autosomal recessive pattern, affected individuals must inherit one altered copy of the gene from each parent. This genetic mutation leads to the hearing loss seen in this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.