Yemenite deaf-blind hypopigmentation syndrome
Medical condition
From Wikipedia, the free encyclopedia
Yemenite deaf-blind hypopigmentation syndrome is a condition caused by a mutation on the SRY-related HMG-box gene 10[2] (not SOX10).[3]
| Yemenite deaf-blind hypopigmentation syndrome | |
|---|---|
| Other names | Warburg-Thomsen syndrome[1] |
It was characterized in 1990,[4] after being seen in two siblings from Yemen who presented with a "hitherto undescribed association of microcornea, colobomata of the iris and choroidea, nystagmus, severe early hearing loss, and patchy hypo- and hyperpigmentation."[1] Some sources affirm SOX10 involvement.[5][6]
