Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Autosomal recessive disease
ABCD syndrome
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).
This condition has no sub-types.