- Megacystis (HP:0000021): Dilatation of the bladder postnatally. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2241)
- Nausea and vomiting (HP:0002017): Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2241)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2241)
- Microcolon (HP:0004388): A colon of abnormally small caliber. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2241)
- Hypoperistalsis (HP:0100771): Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2241)
- 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:2241)
- Hydroureter (HP:0000072): The distention of the ureter with urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2241)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2241)
- 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: Frequent (HP:0040282). (ORPHA:2241)
- Abnormality of the gastrointestinal tract (HP:0011024): An abnormality of the gastrointestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2241)
- 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:2241)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2241)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2241)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2241)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2241)
- Neoplasm of the heart (HP:0100544): A tumor (abnormal growth of tissue) of the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2241)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2241)
These phenotypes are associated with the disease Megacystis-microcolon-intestinal hypoperistalsis syndrome (ORPHA:2241).