- Multicystic kidney dysplasia (HP:0000003): Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2970)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2970)
- Abnormality of the bladder (HP:0000014): An abnormality of the urinary bladder. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2970)
- 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: Very frequent (HP:0040281). (ORPHA:2970)
- Abnormality of the ureter (HP:0000069): An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2970)
- Hydroureter (HP:0000072): The distention of the ureter with urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2970)
- Vesicoureteral reflux (HP:0000076): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2970)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2970)
- Abnormality of the uterus (HP:0000130): An abnormality of the uterus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2970)
- Decreased fertility (HP:0000144). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2970)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2970)
- Abnormal rib morphology (HP:0000772): An anomaly of the rib. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2970)
- Congenital hip dislocation (HP:0001374). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2970)
- 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:2970)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2970)
- 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: Occasional (HP:0040283). (ORPHA:2970)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2970)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2970)
- 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: Occasional (HP:0040283). (ORPHA:2970)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2970)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2970)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2970)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2970)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2970)
- Volvulus (HP:0002580): Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2970)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2970)
- Vertebral segmentation defect (HP:0003422): An abnormality related to a defect of vertebral separation during development. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2970)
- Aplasia of the abdominal wall musculature (HP:0005199): Absence of the abdominal musculature. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2970)
- Aplasia/Hypoplasia of the lungs (HP:0006703). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2970)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2970)
- Congenital posterior urethral valve (HP:0010957): A developmental defect resulting in an obstructing membrane in the posterior male urethra. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2970)
- Intestinal atresia (HP:0011100): An abnormal closure, or atresia of the tubular structure of the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2970)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2970)
- Urogenital sinus anomaly (HP:0100779): A rare birth defect in women where the urethra and vagina both open into a common channel. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2970)
These phenotypes are associated with the disease Prune belly syndrome (ORPHA:2970).