ABCD syndrome

ABCD syndrome
SpecialtyGenetics

Albinism-black lock-cell migration disorder (known by the initialism ABCD syndrome) is a condition affecting a person's physical appearance and physiology: (1) A – albinism, (2) B – black lock of hair, (3) C – cell migration disorder of the neurocytes of the gut, and (4) D – sensorineural deafness. The syndrome is caused by mutation in the endothelin B receptor gene (EDNRB).

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