Waardenburg syndrome type 4C
Information
- Disease name
- Waardenburg syndrome type 4C
- Disease ID
- DOID:0110955
- Description
- "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9462749]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:9258
- Cross Reference ID (Disease Ontology)
- MIM:613266
- Exact Synonym (Disease Ontology)
- Waardenburg syndrome type IVC
- Exact Synonym (Disease Ontology)
- Waardenburg syndrome with Hirschsprung disease type 4C
- Exact Synonym (Disease Ontology)
- WS4C