Yemenite deaf-blind hypopigmentation syndrome
Jump to navigation
Jump to search
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