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ABCD Syndrome

ABCD Syndrome is a rare inherited condition characterized by albinism, deafness, a black lock of hair, and intestinal abnormalities.

ABCD is an 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).


[External Links]
Information from wrongdiagnosis.com
Genetic related Information of the disease from genecards.org
Disease Information from ncbi.nlm.nih.gov

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