Conditions / Genetic

visceral heterotaxy 14

info · Genetic

A visceral heterotaxy that has_material_basis_in homozygous or compound heterozygous mutation in the C1ORF127 gene on chromosome 1p36.

Signs and symptoms

Bronchomalacia
Left atrial isomerism
Retrognathia
Cystic hygroma
Posteriorly rotated ears
Downslanted palpebral fissures
Abdominal situs inversus
Pectus excavatum
Cyanosis
Low-set ears