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:
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[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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