MedGen

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene. [from MONDO]

Keutel syndrome (KTLS) is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al., 2014). [from OMIM]

Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). [from OMIM]

Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene. [from MONDO]

Underdevelopment of the pulmonary artery. [from HPO]