" /> Waardenburg Syndrome Type 4 - CISMeF





Preferred Label : Waardenburg Syndrome Type 4;

NCIt synonyms : Waardenburg-Shah Syndrome; Waardenburg Syndrome Type IV;

NCIt definition : A rare, autosomal dominant or autosomal recessive syndrome caused by mutations in the SOX10, EDN3, or EDNRB genes. It is characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease.;

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03/05/2025


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