Waardenburg-Shah syndrome (Q46722): Difference between revisions
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Revision as of 15:30, 13 August 2026
In this syndrome the phenotype includes not only the classical features of Waardenburg syndrome but also Hirschsprung disease. It may be caused by mutations in SOX10, EDN3 or EDNRB genes.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD2H.3 |
||
| English | Waardenburg-Shah syndrome |
In this syndrome the phenotype includes not only the classical features of Waardenburg syndrome but also Hirschsprung disease. It may be caused by mutations in SOX10, EDN3 or EDNRB genes. |
