Waardenburg Syndrome Type 2A
Waardenburg Syndrome Type 2A Definition
Waardenburg Syndrome type 2 or WS2A for brevity, is a subtype of Waardenburg Syndrome 2 where the variation in the gene involves the MITF or the microphthalmia-associated transcription factor located at the 3p14.1-p12.3. It is also manifest by hearing impairment. It is also said to be an autosomal recessive inasmuch as it need two copies of altered gene to make a person affected with the disorder.