ABCD syndrome
ABCD syndrome
Definition
An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).
Also known as ABCD syndrome, albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness — per MONDO