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Yemenite deaf-blind hypopigmentation syndrome
Genetics:
- associated with defects in SOX10
Clinical manifestations:
- cutaneous hypopigmented & hyperpigmented spots & patches, microcornea, coloboma & severe hearing loss
- another case observed in a girl with similar skin symptoms & hearing loss but without microcornea or coloboma is reported as a mild form of this syndrome
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 601706
References
UniProt :accession P56693