Contents

Search

Waardenburg syndrome type 2D

Genetics: - autosomal dominant - associated with defects in SNAI2 Clinical manifestations: - sensorineural deafness - pigmentary disturbances - absence of dystopia canthorum - frequency of deafness is higher in WS2 than in WS1

Database Correlations

OMIM 608890

References

  1. UniProt :accession O43623