Tags: Disease.
The genetic disorder Yemenite deaf-blind hypopigmentation syndrome also known as Warburg-Thomsen syndrome is a condition caused by a mutation on the SRY-related HMG-box gene 10 (not SOX10).It was characterized in 1990 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. Some sources affirm SOX10 involvement.