autosomal recessive nonsyndromic hearing loss 29

Autosomal recessive nonsyndromic hearing loss 29 is caused by mutations in the CLDN14 gene. This condition leads to hearing loss that is not associated with other syndromic features, meaning it occurs in isolation without additional health issues. The inheritance pattern is autosomal recessive, which means that both copies of the gene in each cell have mutations. Individuals with one mutated copy typically do not show symptoms but can pass the mutation to their offspring. The prevalence of this condition is not well characterized, indicating a need for further research.

Documentation for autosomal recessive nonsyndromic hearing loss 29 is limited due to the rarity of the condition and the recent identification of its genetic basis. As fewer individuals are affected, systematic clinical studies are challenging to conduct. This can lead to a lack of comprehensive clinical characterization and understanding of the condition's full impact.