Waardenburg syndrome type 2E

Waardenburg syndrome type 2E is a form of Waardenburg syndrome type 2 that is caused by a mutation in the SOX10 gene. This condition may present with features common to Waardenburg syndrome, and its presentation can vary, with some individuals showing neurological involvement and others not. Waardenburg syndrome as a whole is known for its association with changes in pigmentation and auditory function. In type 2E, the mutation in the SOX10 gene distinguishes it from other subtypes of Waardenburg syndrome. OMIM and GARD provide further insights into this condition for those interested in more technical details.

Information about symptoms is currently limited for this condition.

The cause of Waardenburg syndrome type 2E is a mutation in the SOX10 gene. Mutations in this gene can lead to the features seen in this condition. Understanding the genetic cause helps researchers and clinicians distinguish it from other similar conditions.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.