Phenotypes associated with the disease megacystis-microcolon-intestinal hypoperistalsis syndrome 1 (OMIM:249210):
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. (PMID:28602422)
- Fetal megacystis (HP:0010956): Fetal megacystis is an abnormally enlarged bladder identified at any gestational age. Evidence: PCS. Onset: Antenatal onset (HP:0030674). (PMID:28602422)
- Hydroureter (HP:0000072): The distention of the ureter with urine. Evidence: PCS. (PMID:28602422)
- Generalized edema (HP:0007430): Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: PCS. Onset: Antenatal onset (HP:0030674). (PMID:28602422)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:28602422)
- 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. Onset: Antenatal onset (HP:0030674). (PMID:28602422)