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Table 4 Known genetic syndromes with heterotaxy in the disease phenotype

From: A multi-disciplinary, comprehensive approach to management of children with heterotaxy

22q11.2 Deletion Syndrome

Aglossia with Situs Inversus

Agnathia-Otocephaly Complex [104]

Bardet-Biedl Syndrome [105]

Cardiac Urogenital Syndrome [106]

Cardiofacioneurodevelopmental Syndrome [107]

Carpenter Syndrome [108]

DK Phocomelia Syndrome

Ellis-Van Creveld Syndrome [109]

Galactosialidosis

Hennekam Lymphangiectasia-Lymphedema Syndrome [110]

Johanssen-Blizzard Syndrome

Marden-Walker Syndrome

Nephronophthisis

Oculo-Auriculo-Vertebral Spectrum Disorder

Polycystic Kidney Disease

Primary Ciliary Dyskinesia

Renal-Hepatic-Pancreatic Dysplasia

Sandestig-Stefanova Syndrome

Short Rib Thoracic Dysplasia 3