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ABCD Syndrome

Definition


Q. What is ABCD Syndrome?
Ans. ABCD syndrome is the acronym for albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness. It has been found to be caused by mutation in the endothelin B receptor gene (EDNRB).

Symptoms


Symptoms of ABCD Syndrome
The list of signs and symptoms mentioned in various sources for ABCD syndrome includes the 5 symptoms listed below:
  1. Deafness
  2. Intestinal Dysfunction
  3. Albinism
  4. Black Lock of Hair
  5. Lack of Nerves in Small Intestine

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