- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. Frequency: 1/2. Onset: Fetal onset (HP:0011461). (PMID:24337657)
- Megacystis (HP:0000021): Dilatation of the bladder postnatally. Evidence: PCS. Frequency: 2/2. (PMID:24337657)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/2. (PMID:24337657)
- Hepatic failure (HP:0001399). Evidence: PCS. Frequency: 1/2. (PMID:24337657)
- Microcolon (HP:0004388): A colon of abnormally small caliber. Evidence: PCS. Frequency: 2/2. (PMID:24337657)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: PCS. Frequency: 1/2. (PMID:24337657)
- Hydroureter (HP:0000072): The distention of the ureter with urine. Evidence: PCS. Frequency: 1/2. (PMID:24337657)
- Fetal onset (HP:0011461): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: PCS. Frequency: 1/2. (PMID:24337657)
- 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:24337657)
- 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: 2/2. (PMID:24337657)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 1/2. (PMID:24337657)
These phenotypes are associated with the disease megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (OMIM:619431).