Yemenite Deaf-Blind Hypopigmentation Syndrome

Clinical Features

Warburg et al. (1990) reported a sister and brother from Yemen with a hitherto undescribed association of microcornea, colobomata of the iris and choroidea, nystagmus, severe early hearing loss, and patchy hypo- and hyperpigmentation. They proposed that the disorder represents a new syndrome with autosomal recessive inheritance.

Molecular Genetics

Exclusion Studies

In the patients reported by Warburg et al. (1990), Bondurand et al. (1999) excluded mutations in the SOX10 gene (602229).