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Usher syndrome type IIA
Epidemiology:
1) most common of form of Usher syndrome
2) most frequent cause of combined deafness & blindness in adults
3) affects 3-6% of children born with hearing impairment
Genetics:
- autosomal recessive disorder
Clinical manifestations:
1) sensorineural hearing deficiencies at birth
2) later development of progressive retinitis pigmentosa
3) mild hearing impairment with normal vestibular responses
Database Correlations
OMIM 276901
Entrez Gene 7399
References
UniProt :accession Q9H6K4