UNC45A

Professionals

Clinical features and inheritance
Mutations in the UNC45A gene cause an autosomal recessive disorder, firstly characterized by the inconsistant presence of congenital diarrhea, cholestasis, deafness and/or bone fragility.

Prevalence
The disorder is rare as only 4 patients have been published in mid 2019. New cases have been presented to international meetings, and will be published in the future.