46 Townes-brocks syndrome is a genetic condition characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. most affected individuals have at least two of these three main features. the condition is caused by mutations in the sall1 gene which provides instructions for making proteins that are involved in the formation of tissues and organs before birth. it follows an autosomal dominant pattern of inheritance

All SNPs

Disease Hierarchy

Disease Interacts with Genes

Disease Interacts with Substances

Processes Associated With Trait

Symptoms Associated With Trait