- Double outlet left ventricle (HP:0011581): A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:3427)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3427)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3427)
- Abnormal right ventricular function (HP:0033118): Anomalous physiology (function) of the right ventricle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3427)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3427)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3427)
- Tricuspid atresia (HP:0011662): Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3427)
- Abnormal coronary artery course (HP:0011686): An abnormal path of a coronary artery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3427)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3427)
- Orofacial cleft (HP:0000202): The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3427)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3427)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3427)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3427)
- Systolic heart murmur (HP:0031664): A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3427)
- Pulmonary artery stenosis (HP:0004415): An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3427)
- Bicuspid pulmonary valve (HP:0005182): The presence of a bicuspid pulmonary valve. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3427)
- Pulmonary valve atresia (HP:0010882): A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:3427)
These phenotypes are associated with the disease Double outlet left ventricle (ORPHA:3427).