Usher syndrome type 1D

Usher syndrome type 1D is a form of Usher syndrome type I. It is caused by mutations in the gene that makes a protein called cadherin-23. These mutations can be present in both copies of the gene (homozygous) or in two different forms (compound heterozygous). The changes in the gene affect how this protein works in the body. This condition is inherited in an autosomal recessive manner, which means that people with this condition carry mutations in both copies of the gene. The alterations in the gene can affect hearing and vision, as seen in other forms of Usher syndrome, although detailed information about the symptoms is limited in the available description.

Information about symptoms is currently limited for this condition.

This condition is caused by mutations in the gene that encodes cadherin-23. It is inherited in an autosomal recessive manner, meaning that changes in both copies of the gene are needed for the condition to appear. The known genes involved in this condition include CDH23 and PCDH15.

Information about treatment options and management approaches is currently limited for this condition.

Information about the outlook and quality of life for people with this condition is currently limited.

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