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Usher syndrome type 1B/myosin VIIA mutation associated
Genetics:
- associated with defects in myosin 7A
Clinical manifestations:
- Usher syndrome type 1 is characterized by profound congenital sensorineural deafness, absent vestibular function & prepubertal onset of progressive retinitis pigmentosa leading to blindness
Database Correlations
OMIM 276900
Entrez Gene 4647