ABCD syndrome

Definition:

ABCD syndrome is defined as albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness. It is inherited as an autosomal recessive trait.

References:

[1]. A Gross, et al. Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. Am J Med Genet. 1995 Apr 10;56(3):322-6. [Content Brief]

[2]. Joke B G M Verheij, et al. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. Am J Med Genet. 2002 Mar 15;108(3):223-5. [Content Brief]

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