ABCD syndrome
From BugSigDB
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).
- Aliases
- ABCD syndrome
- ABCDS
- albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness
- albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness
