- Dysplastic tricuspid valve (HP:0030732): A congenital malformation of the tricuspid valve characterized by leaflet deformation. Evidence: IEA. (OMIM:618280)
- Pulmonary hypoplasia (HP:0002089). Evidence: PCS. Frequency: 2/2. (PMID:29446546)
- Dextrocardia (HP:0001651): The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. Evidence: IEA. (OMIM:618280)
- Bronchomalacia (HP:0002780): Weakness or softness of the cartilage in the walls of the bronchial tubes. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Ambiguous genitalia (HP:0000062): A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. Evidence: IEA. (OMIM:618280)
- Prolonged bleeding time (HP:0003010): Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Interrupted aortic arch (HP:0011611): Non-continuity of the arch of aorta with an atretic point or absent segment. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: IEA. (OMIM:618280)
- Mesocardia (HP:0011599): Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:618280)
- Unilateral cryptorchidism (HP:0012741): Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- 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: PCS. Frequency: 1/2. (PMID:29446546)
- Tracheomalacia (HP:0002779). Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Accessory spleen (HP:0001747): An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. Evidence: IEA. (OMIM:618280)
- 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: PCS. Frequency: 1/2. (PMID:29446546)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:618280)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Biventricular hypertrophy (HP:0200128): Thickening of the heart walls in both ventricles. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Aplasia of the uterus (HP:0000151): A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue. Evidence: IEA. (OMIM:618280)
- Coronary sinus enlargement (HP:0031298): Abnormal increase in size of the coronary sinus. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- 2-3 toe syndactyly (HP:0004691): Syndactyly with fusion of toes two and three. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Cor triatriatum sinister (HP:0031134): A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Partial anomalous pulmonary venous return (HP:0010773): A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Scimitar anomaly (HP:0011626): Right pulmonary venous return to the inferior vena cava. Evidence: PCS. Frequency: 2/2. (PMID:29446546)
- Patent urachus (HP:0010479): Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Penoscrotal hypospadias (HP:0000808): A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Second trimester onset (HP:0034198): This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive). Evidence: PCS. Frequency: 2/2. (PMID:29446546)
- Tetralogy of Fallot (HP:0001636): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: IEA. (OMIM:618280)
- Pericardial effusion (HP:0001698): Accumulation of fluid within the pericardium. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Bifid scrotum (HP:0000048): Midline indentation or cleft of the scrotum. Evidence: IEA. (OMIM:618280)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: IEA. (OMIM:618280)
- Intestinal malrotation (HP:0002566): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Hepatopulmonary fusion (HP:0410259): Fusion of the liver with the lung. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- Enlarged kidney (HP:0000105): An abnormal increase in the size of the kidney. Evidence: PCS. Frequency: 1/2. (PMID:29446546)
- 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: PCS. Frequency: 2/2. (PMID:29446546)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:29446546)
These phenotypes are associated with the disease cardiac-urogenital syndrome (OMIM:618280).