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Waardenburg syndrome type 2
Genetics:
- autosomal dominant
- genetically heterogenous
Clinical manifestations:
- sensorineural deafness
- pigmentary disturbances
- absence of dystopia canthorum
- frequency of deafness is higher then in Waardenburg's syndrome type 1
Specific
Waardenburg syndrome type 2 OA; Waardenburg syndrome type 2 with ocular albinism; WS2-OA
Waardenburg syndrome type 2A
Waardenburg syndrome type 2B
Waardenburg syndrome type 2D
Waardenburg syndrome type 2E
General
Waardenburg syndrome
Database Correlations
OMIM 608890
References
- UniProt :accession O43623