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ABCD syndrome
Pathology:
- aganglionosis of the large intestine
- total absence of neurocytes & nerve fibers in the small intestine
Genetics:
- autosomal recessive
- associated with defects in EDNRB
Clinical manifestations:
- albinism
- black lock at temporal occipital region
- bilateral deafness
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 600501
References
UniProt :accession P24530