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Usher syndrome type IC/chromosome 11p associated (Usher syndrome type 1 Acadian variety)

Epidemiology: 1) most frequent cause of hereditary deaf-blindness in humans 2) affects 1 child in 25,000 Genetics: 1) autosomal recessive disease 2) associated with defects in harmonin gene Clinical manifestations: 1) affects both the inner ear & the retina 2) severe to profound congenital sensorineural deafness 3) constant vestibular dysfunction 4) retinitis pigmentosa with prepubertal onset

Database Correlations

OMIM correlations MORBIDMAP 605242 Entrez Gene 10083

References

  1. UniProt :accession Q9Y6N9
  2. OMIM :accession 276904