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Usher syndrome type 1D
rareA form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner.
- Identifiers
- MONDO:0010984 OMIM:601067
- Part of
- Usher syndrome type 1
- Also known as
- USH1D · Usher syndrome, type 1D · Usher syndrome, type 1D/F digenic · USHER syndrome, type ID
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