visceral heterotaxy 13

info · Genetic

A visceral heterotaxy that is characterized by heterotaxy and congenital heart disease and that has_material_basis_in homozygous mutation in the DAND5 gene on chromosome 19p13.

Signs and symptoms

Epicanthus
Complete atrioventricular canal defect
Dextrocardia
Delayed fine motor development
Coarse facial features
Bronchial isomerism
Right atrial isomerism
Recurrent infections
Hypertelorism
Asplenia

Also known as: HTX13