- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:600001)
- Microcolon (HP:0004388): A colon of abnormally small caliber. Evidence: TAS. Frequency: Occasional (HP:0040283). Onset: Antenatal onset (HP:0030674). (OMIM:600001)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:600001)
- Single umbilical artery (HP:0001195): Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. Evidence: PCS. Frequency: 1/4. (PMID:24385578)
- Glycosuria (HP:0003076): An increased concentration of glucose in the urine. Evidence: IEA. (OMIM:600001)
- Interrupted aortic arch (HP:0011611): Non-continuity of the arch of aorta with an atretic point or absent segment. Evidence: PCS. Frequency: 1/15. Onset: Antenatal onset (HP:0030674). (PMID:22158542)
- Hyperglycemia (HP:0003074): An increased concentration of glucose in the blood. Evidence: TAS. (OMIM:600001)
- Colon perforation (HP:0031369): A hole (perforation) in the wall of the colon. Evidence: PCS. Frequency: 1/15. (PMID:22158542)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: IEA. (OMIM:600001)
- 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: PCS. Frequency: 1/15. Onset: Antenatal onset (HP:0030674). (PMID:22158542)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. (OMIM:600001)
- 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: 5/15. (PMID:22158542)
- Perimembranous ventricular septal defect (HP:0011682): A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs. Evidence: PCS. Frequency: 1/15. (PMID:22158542)
- Transposition of the great arteries (HP:0001669): A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. Evidence: IEA. (OMIM:600001)
- 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: IEA. (OMIM:600001)
- 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: 1/4. Onset: Congenital onset (HP:0003577). (PMID:24385578)
- Pulmonic stenosis (HP:0001642): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: IEA. (OMIM:600001)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: PCS. Frequency: 3/4. Onset: Congenital onset (HP:0003577). (PMID:24385578)
- 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: PCS. Frequency: 3/15. Onset: Congenital onset (HP:0003577). (PMID:22158542)
- Cervical ribs (HP:0000891). Evidence: PCS. Frequency: 1/4. Onset: Congenital onset (HP:0003577). (PMID:24385578)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:600001)
- Truncus arteriosus (HP:0001660): A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. Evidence: PCS. Frequency: 1/15. (PMID:22158542)
- Total absence of the pericardium (HP:0011629): No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy. Evidence: IEA. Frequency: 1/4. Onset: Congenital onset (HP:0003577). (PMID:24385578)
- Ureteral duplication (HP:0000073): A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. Evidence: PCS. Frequency: 1/4. Onset: Congenital onset (HP:0003577). (PMID:24385578)
- Pancreatic hypoplasia (HP:0002594): Hypoplasia of the pancreas. Evidence: IEA. (OMIM:600001)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 7/15. (PMID:22158542)
- Absent gallbladder (HP:0011467): A developmental defect in which the gallbladder fails to form. Evidence: PCS. Frequency: 4/15. (PMID:22158542)
- Hypoplastic tricuspid valve (HP:0011573): Congenital defect characterized by underdevelopment of the tricuspid valve. Evidence: IEA. (OMIM:600001)
- Aplasia of the left hemidiaphragm (HP:0009112): Congenital absence of the left half of the diaphragm. Evidence: PCS. Frequency: 2/15. Onset: Antenatal onset (HP:0030674). (PMID:22158542)
- 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: PCS. Frequency: 3/15. (PMID:22158542)
- 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: PCS. Frequency: 1/4. Onset: Congenital onset (HP:0003577). (PMID:24385578)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: PCS. Frequency: 1/15. (PMID:22158542)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. (OMIM:600001)
- 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: PCS. Frequency: 6/15. Onset: Antenatal onset (HP:0030674). (PMID:22158542)
- Biliary atresia (HP:0005912): Atresia of the biliary tree. Evidence: PCS. Frequency: 1/15. (PMID:22158542)
- 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:22158542)
- 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: 1/15. (PMID:22158542)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 2/15. Onset: Neonatal onset (HP:0003623). (PMID:22158542)
These phenotypes are associated with the disease pancreatic hypoplasia-diabetes-congenital heart disease syndrome (OMIM:600001).