| 1 | ABCD, EDNRB, WS4A |
| ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. | |
| Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM. | |
| Am J Med Genet 108(3):223-5. 2002 | |
| 2 | ABCD, EDNRB |
| Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. | |
| Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M. | |
| Am J Med Genet 56(3):322-6. 1995 | |